1. Bmj.com Emery 317 (7164): 991 and valuable classification of the muscular dystrophies.Ten years later Walton reviewed The muscular dystrophies are a heterogeneous group of inherited disorders characterised by http://www.bmj.com/cgi/content/full/317/7164/991

Home Help Search/Archive Feedback ... Respond to this article PubMed citation Related articles in PubMed Download to Citation Manager This article has been cited by other articles Citation Map Search Medline for articles by: Emery, A. E H Alert me when: New articles cite this article Collections under which this article appears: Other Neurology BMJ 1998;317:991-995 ( 10 October ) Clinical review Fortnightly review The muscular dystrophies Alan E H Emery emeritus professor Research Unit, Department of Neurology, Royal Devon and Exeter Hospital, Exeter EX2 5DW Correspondence to: Professor Emery, 2 Ingleside, Upper West Terrace, Budleigh Salterton, Devon EX9 6NZ In 1954 based on their own detailed clinical studies and an extensive review of the earlier literature, Walton and Nattrass proposed a new and valuable classification of the muscular dystrophies. Ten years later Walton reviewed advances in the subject in the BMJ Many developments have taken place since then during a period in which there have been important advances in the application of molecular biology to medicine. Using protein studies and gene

2. Muscular Dystrophies: Information For Non-scientists Leiden Muscular Dystrophy pages©. Information for nonscientists on muscular dystrophies. ( last modified February, 2004; with the help of Vladimir Vladimirov) Contents. Duchenne muscular dystrophy http://www.dmd.nl/nonsciuk.html

Leiden Muscular Dystrophy pages Information for non-scientists on muscular dystrophies (last modified February, 2004; with the help of Vladimir Vladimirov) NOTE: most of these items follow links to the homepage of the Muscular Dystrophy Campaign, the MDC Nederlandse versie Contents Research Approaches Towards a Cure - by Günter Scheuerbrandt , updated regularly Muscular dystrophies - facts about specific muscular dystrophies. A.o.; Duchenne muscular dystrophy (DMD) Becker muscular dystrophy (BMD) Limb-Girdle muscular dystrophy (LGMD / SCARMD) Emery-Dreifuss muscular dystrophy (EMD) ... Tests to detect muscular dystrophy carriership : prenatal diagnosis a muscle biopsy: what happens ? / what is how analysed ? European directory of laboratories performing DNA diagnosis: EDDNAL The long road to therapy : the many steps to take / how far are we (per muscular dystrophy) ? Potential therapies viral vectors: what are these ? clinical trials: what has been tried ? / what was the success ? Explanation of terms Glossary of terms Hereditary of muscular dystrophy (Genetics): DNA, genes, chromosomes, cells

3. Muscular Dystrophies/Myopathies Physicians, medical students, and patients can get information about the diagnosis and treatment of neurological diseases and disorders. muscular dystrophies and Myopathies. Myopathies are diseases of the muscles Some of these muscular dystrophies result in premature death; others may allow the person to live for http://ucneurology.uchicago.edu/Neurological_Disorders/NeuroMuscular/Muscular_Dy

Muscular Dystrophies and Myopathies Myopathies are diseases of the muscles. They can be caused by an inherited genetic abnormality (as in muscular dystrophy) or an abnormality of the immune system (such as polymyositis). These disorders can develop at any time from birth through adulthood. University of Chicago neurologists have expertise in treating many different muscle diseases. There are many types of muscular dystrophy (MD). These diseases are classified according to the muscle groups involved and the age of onset. Some of these muscular dystrophies result in premature death; others may allow the person to live for decades with varying degrees of disability. Symptoms Muscular dystrophy is characterized by muscle weakness in various parts of the body, depending on the type of MD or myopathy. Muscle weakness progresses (worsens) over time. Initial symptoms usually develop gradually. Diagnosis Diagnosis is based on a comprehensive physical examination and sophisticated diagnostic tests. The effectiveness of therapy depends upon accurate diagnosis of the precise type of MD, so physicians here may use advanced diagnostic techniques such as genetic analysis and biopsy of muscle or nerve tissue to pinpoint the type of neuromuscular disease or myopathy. The state-of-the-art neurophysiology lab at the University of Chicago Hospitals provides a full array of diagnostic tests including electrodiagnostic studies. Treatment Adult patients receive care in a multidisciplinary clinic which is sponsored by the

4. The Muscular Dystrophies (MD) Are A Heterogenous Group Of Genetically Determined Dengue has become a major international public health concern in recent years. The geographical distribution has greatly expanded and the number of cases has Childhood muscular dystrophies. Veena http://www.indegene.com/Neu/FeatArt/indNeuFeatArt4.html?type=Neu

5. HHMI News: Muscle-Repair Defect Underlies Two Muscular Dystrophies HHMI researchers identify protein involved in repairing muscle. Defect Causes Rare muscular dystrophies. Mutation Linked to Heart Disease in Muscular Dystrophy affecting dysferlin caused the http://www.hhmi.org/news/campbell5.html

RESEARCH NEWS RESEARCH NEWS GRANT ANNOUNCEMENTS SCIENCE EDUCATION NEWS INSTITUTE NEWS ... HHMI HOME ALSO OF INTEREST Defect Causes Rare Muscular Dystrophies Mutation Linked to Heart Disease in Muscular Dystrophy Cellular Target of Leprosy, Deadly Viruses Found Download this story in Acrobat PDF format. (requires Acrobat Reader Muscle-Repair Defect Underlies Two Muscular Dystrophies "We also view this as an important discovery about a basic physiological process," said HHMI investigator Kevin Campbell. A protein defective in two types of muscular dystrophy also appears to be important in repairing damaged muscle, according to Howard Hughes Medical Institute researchers at the University of Iowa College of Medicine. The discovery reveals the first known component of the machinery that repairs the damaged membrane in a muscle fiber. Further studies of this and related proteins could lead to a better understanding of disorders that affect cardiac and skeletal muscles. Howard Hughes Medical Institute investigator Kevin Campbell and Dimple Bansal led the research group that published its findings in the May 8, 2003, issue of the journal

6. THE MERCK MANUAL, Sec. 14, Ch. 184, Muscular Disorders This Publication Is Searchable. The Merck Manual of Diagnosis and Therapy. Section 14. Neurologic Disorders. muscular dystrophies. Myopathies. Channelopathies. muscular dystrophies Topics. muscular dystrophies. Myopathies. Channelopathies. muscular dystrophies. A group of inherited, progressive muscle disorders, distinguished clinically by http://www.merck.com/pubs/mmanual/section14/chapter184/184a.htm

This Publication Is Searchable The Merck Manual of Diagnosis and Therapy Section 14. Neurologic Disorders Chapter 184. Muscular Disorders Topics Muscular Dystrophies Myopathies Channelopathies Muscular Dystrophies A group of inherited, progressive muscle disorders, distinguished clinically by the selective distribution of weakness. Duchenne dystrophy is the most common and important form (see below Facioscapulohumeral (Landouzy-Dejerine) muscular dystrophy is an autosomal dominant disorder characterized by weakness of the facial muscles and shoulder girdle, usually beginning at age 7 to 20 yr. The gene is located on chromosome 4q35 in most families, but the genetic defect has not been identified, and the pathogenesis is unknown. Difficulty in whistling, eye closure, and elevation of the arms due to weakness of the scapular stabilizer muscles occurs early. Anterior tibial and peroneal weakness develops in some patients. Although footdrop develops, ambulation is rarely lost. Life expectancy is normal. In limb-girdle muscular dystrophy

7. Muscular Dystrophy Association | Diseases descriptions. muscular dystrophies Duchenne Muscular Dystrophy (DMD) (Also known as Pseudohypertrophic); Becker Muscular Dystrophy (BMD); http://www.mdausa.org/disease/

document.write('<');document.write('! '); Neuromuscular Diseases in the MDA Program The pages in this section will introduce you to the diseases in MDA's program. Follow any of the links below to find the characteristics of a disease; the usual age of onset, progression and inheritance type; a comprehensive list of materials on this Web site about the disease. There is also a master list of the diseases containing brief descriptions. MUSCULAR DYSTROPHIES: Duchenne Muscular Dystrophy (DMD) (Also known as Pseudohypertrophic) Becker Muscular Dystrophy (BMD) Emery-Dreifuss Muscular Dystrophy (EDMD) Limb-Girdle Muscular Dystrophy (LGMD) Facioscapulohumeral Muscular Dystrophy (FSH or FSHD) (Also known as Landouzy-Dejerine) Myotonic Dystrophy (MMD) (Also known as Steinert's Disease) Oculopharyngeal Muscular Dystrophy (OPMD) Distal Muscular Dystrophy (DD) (Miyoshi) Congenital Muscular Dystrophy (CMD) MOTOR NEURON DISEASES: Amyotrophic Lateral Sclerosis (ALS) (Also known as Lou Gehrig's Disease) Infantile Progressive Spinal Muscular Atrophy (SMA, SMA1 or WH)

8. Muscular Dystrophy Association | Diseases muscular dystrophies Duchenne Muscular Dystrophy (DMD) (Also known as Pseudohypertrophic) read recessive (females are carriers). Becker Muscular Dystrophy (BMD) read more http://www.mdausa.org/disease/40list.html

Neuromuscular Diseases in the MDA Program Updated: 01/29/99 (Alternate names and commonly used abbreviations are given in parentheses) MUSCULAR DYSTROPHIES: Duchenne Muscular Dystrophy (DMD) (Also known as Pseudohypertrophic) [read more] Onset: Early childhood - about 2 to 6 years. Symptoms: Generalized weakness and muscle wasting affecting limb and trunk muscles first. Calves often enlarged. Progression: Disease progresses slowly but will affect all voluntary muscles. Survival rare beyond late twenties. Inheritance: X-linked recessive (females are carriers). Becker Muscular Dystrophy (BMD) [read more] Onset: Adolescence or adulthood. Symptoms: Almost identical to Duchenne but often much less severe. Can be significant heart involvements. Progression: Slower and more variable than Duchenne with survival well into mid to late adulthood. Inheritance: X-linked recessive (females are carriers). Emery-Dreifuss Muscular Dystrophy (EDMD) [read more] Onset: Childhood to early teens. Symptoms: Weakness and wasting of shoulder, upper arm and shin muscles. Joint deformities are common. Progression: Disease usually progresses slowly. Frequent cardiac complications are common.

9. Muscular Dystrophy Campaign Welcome The Muscular Dystrophy Campaign is the only UK charity focusing on all muscular dystrophies and allied disorders. Our Events Page. Our Information Pages. http://www.muscular-dystrophy.org/

@import "css/cssstyle.css"; Receive copies of Target MD Get your message to over 30,000 readers by advertising in Target MD magazine. Call for details: David N Russell site map The Muscular Dystrophy Campaign is the only UK charity focusing on all muscular dystrophies and allied disorders. It has pioneered the search for treatments and cures for over 40 years and provides practical, medical and emotional support to people affected by the condition. If you require information about neuromuscular conditions, research to find treatments or cures, or care and equipment, you will find this in our 170 page information section If you are interested in becoming a member of the Muscular Dystrophy Campaign, wish to make a donation or would like to know more about fundraising, this is contained in the support us section. The guestbook is for you to comment on our site, to ask questions, or to make contact and share experiences with other users. The latest news section brings you regularly updated news about neuromuscular conditions or the activities of the charity. Celebrities get tongue-tied for the Muscular Dystrophy Campaign Government announce £1.6 million funding

10. Muscular Dystrophy Campaign Duchenne Muscular Dystrophy All the muscular dystrophies are caused by faults in genes (the units of inheritance that parents pass on to their children) and they cause progressive muscle http://www.muscular-dystrophy.org/information/KeyFacts/duchenne.html

@import "../../css/cssstyle.css"; Receive copies of Target MD Get your message to over 30,000 readers by advertising in Target MD magazine. Call for details: David N Russell Duchenne muscular dystrophy March 2002 Written by Prof. KMD Bushby, Professor of Neuromuscular Genetics, University of Newcastle upon Tyne for the Muscular Dystrophy Campaign Some questions answered for parents who have just learned about the diagnosis. What is Duchenne muscular dystrophy? It is one of more than 20 types of muscular dystrophy. All the muscular dystrophies are caused by faults in genes (the units of inheritance that parents pass on to their children) and they cause progressive muscle weakness because muscle cells break down and are gradually lost. The Duchenne type affects only boys (with extremely rare exceptions) and a problem in this gene is known to result in a defect in a single important protein in muscle fibres called dystrophin. It is named after Dr Duchenne de Boulogne who worked in Paris in the mid-19th century who was one of the first people to study the muscular dystrophies. How serious is it?

11. Facts About Duchenne And Becker Muscular Dystrophies | MDA Publications Facts About Duchenne and Becker muscular dystrophies (DMD and BMD What Causes Duchenne and Becker muscular dystrophies? What Happens to the Voluntary Muscles of Someone with DMD or http://www.mdausa.org/publications/fa-dmdbmd-what.html

New 4/00 Facts About Duchenne and Becker Muscular Dystrophies (DMD and BMD) Muscular Dystrophy Association Introduction What are Duchenne and Becker Muscular Dystrophies? Does it Run in the Family? What Can Be Done to Treat DMD or BMD? ... MDA is Here to Help You WHAT ARE DUCHENNE AND BECKER MUSCULAR DYSTROPHIES? What Causes Duchenne and Becker Muscular Dystrophies? What Happens to the Voluntary Muscles of Someone with DMD or BMD? What Tests are Used to Diagnose DMD and BMD? In the early stages, Duchenne and Becker MD affect the pectoral muscles (which draw back the shoulders), the trunk, and the upper and lower legs. These weaknesses lead to difficulty in rising, climbing stairs and maintaining balance. Muscular dystrophies are genetic disorders characterized by progressive muscle wasting and weakness that begin with microscopic changes in the muscle. As muscles degenerate over time, the person's muscle strength declines. Duchenne muscular dystrophy (DMD) was first described by the French neurologist Guillaume Benjamin Amand Duchenne in the 1860s. Becker muscular dystrophy (BMD) is named after the German doctor Peter Emil Becker, who first described this variant of DMD in the 1950s.

12. Disorder Information - What Is Muscular Dystrophy? What is muscular dystrophy? Who can be affected by muscular dystrophy? IS MUSCULAR DYSTROPHY ANYONE S FAULT? No. muscular dystrophies are genetic diseases. http://www.mdac.ca/english/disorder-info/disorder-info-01.htm

What is muscular dystrophy? Who can be affected by muscular dystrophy? How do various types of muscular dystrophy differ? Is muscular dystrophy anyone's fault? ... What about research? WHAT IS MUSCULAR DYSTROPHY? Muscular Dystrophy (MD) is the name of a group of muscle disorders that are characterized by progressive weakness and wasting of the voluntary muscles that control body movement. As muscle tissue weakens and wastes away, it is replaced by fatty and connective tissue. ^top WHO CAN BE AFFECTED BY MUSCULAR DYSTROPHY? Anyone can be affected. Contrary to popular belief, muscular dystrophy is not exclusively a childhood disorder. While some types of MD are first evident in infancy or early childhood, other types may not appear until later in life. ^top HOW DO THE VARIOUS TYPES OF MUSCULAR DYSTROPHY DIFFER?

13. ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies: Nervous System Diseases muscular dystrophies. Include trials that are no longer and Oxandrolone in Patients With Facioscapulohumeral Dystrophy (FSHD) Condition muscular dystrophies http://clinicaltrials.gov/ct/screen/BrowseAny;jsessionid=8F3912DE71CEBAF29DC83D1

14. MedlinePlus: Muscular Dystrophy Search MEDLINE for recent research articles on • Muscular Dystrophy. Clinical Trials; ClinicalTrials.gov muscular dystrophies (National Institutes of Health); http://www.nlm.nih.gov/medlineplus/musculardystrophy.html

@import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Other health topics: A B C D ... List of All Topics Muscular Dystrophy Contents of this page: News From the NIH Coping Diagnosis/Symptoms ... Teenagers Search MEDLINE for recent research articles on Muscular Dystrophy You may also be interested in these MedlinePlus related pages: Bones, Joints and Muscles Genetics/Birth Defects Latest News Protein May Help In Muscular Dystrophies (05/11/2004, United Press International) From the National Institutes of Health Muscular Dystrophy (MD) (National Institute of Neurological Disorders and Stroke) - Short Summary Clinical Trials ClinicalTrials.gov: Muscular Dystrophies (National Institutes of Health) ClinicalTrials.gov: Muscular Dystrophy, Duchenne (National Institutes of Health) Coping 101 Hints to "Help-with-Ease" for Patients with Neuromuscular Disease (Muscular Dystrophy Association) Also available in: Spanish Learning to Live with Neuromuscular Disease: A Message for Parents (Muscular Dystrophy Association) Also available in: Spanish (Parent Project for Muscular Dystrophy Research) (Parent Project for Muscular Dystrophy Research) Diagnosis/Symptoms Accurate and Affordable Diagnosis of Duchenne Muscular Dystrophy (National Institute of Neurological Disorders and Stroke) Creatine Kinase Test (Muscular Dystrophy Association) Electromyography and Nerve Conduction Velocities (Muscular Dystrophy Association) Muscle Biopsies (Muscular Dystrophy Association) Research Faulty Muscle Repair Implicated in Muscular Dystrophies (National Institute of Neurological Disorders and Stroke)

15. MedlinePlus Medical Encyclopedia: Muscular Dystrophy Muscular dystrophy. top. The group of diseases called muscular dystrophies (MD) includes many inherited disorders such as Becker s http://www.nlm.nih.gov/medlineplus/ency/article/001190.htm

@import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Muscular dystrophy Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors ... Prevention Illustrations Superficial anterior muscles Alternative names Return to top Inherited myopathy; MD Definition Return to top A group of disorders characterized by progressive muscle weakness and loss of muscle tissue. Causes, incidence, and risk factors Return to top The group of diseases called muscular dystrophies (MD) includes many inherited disorders such as: Becker's muscular dystrophy Duchenne muscular dystrophy facioscapulohumeral muscular dystrophy limb-girdle muscular dystrophy Emery-Dreifuss muscular dystrophy myotonic dystrophy myotonia congenita These disorders are distinguished from each other by the type of inheritance (sex-linked, dominant gene , recessive gene ), the age when symptoms appear, and the types of symptoms that develop. Because these are inherited disorders, risks include a family history of muscular dystrophy. Lambert-Eaton syndrome and myasthenia gravis also have symptoms that may be similar to early stages of some types of muscular dystrophies, so these disorders must be ruled out when muscular dystrophies are diagnosed.

16. Ask NOAH About: Muscular Dystrophy Parents Project Genetics Primer Muscular Dystrophy Campaign Inheritance and the muscular dystrophies - Muscular Dystrophy Campaign Muscular Dystrophy http://www.noah-health.org/english/illness/neuro/musdys.html

Ask NOAH About: Muscular Dystrophy What is Muscular Dystrophy? Specific Types The Basics Genetics Diagnosis Alphabetical Search ... Return to Neurological Menu What is Muscular Dystrophy? The Basics ALS, MS, MD: What's the Difference - Center for Neurological Study Facts About Metabolic Diseases of the Muscle - Muscular Dystrophy Association (also in Spanish Making Sense of Muscular Dystropy - KidsHealth Neuromuscular Diseases in the MDA Program - Muscular Dystrophy Association The Meaning of Muscular Dystrophy - KidsHealth ... Muscular Dystropy - Methodist Healthcare System, Houston TX (also in Spanish Muscular Dystrophy FAQ - Muscular Dystrophy Association of Canada Muscular Dystropy Information Page - NINDS Glossaries Glossary of MD Terms - Muscular Dystrophy Campaign Glossary of Terms - Muscular Dystrophy Association Glossary Muscular Dystrophy - Muscular Dystrophy Association of Canada (also in French Genetics Determining if a Person Has MD or is a Carrier - Muscular Dystrophy Campaign Duchenne Becker Muscular Dystrophy - Your Genes, Your Health (Interactive Flash Presentation) For Mothers - Parents Project Genetics Primer - Muscular Dystrophy Campaign Inheritance and the Muscular Dystrophies - Muscular Dystrophy Campaign Muscular Dystrophy (Duchenne and Becker) - New South Wales Genetics Program, Australia

17. DMD DUCHENNE MUSCULAR DYSTROPHY FACT SHEET. muscular dystrophies DUCHENNE AND BECKER. What Are muscular dystrophies? Are other muscular dystrophies difficult to distinguish from BMD? http://www.mda.org.au/specific/mdadmd.html

FACT SHEET MUSCULAR DYSTROPHIES: DUCHENNE AND BECKER What Are Muscular Dystrophies? The muscular dystrophies are a group of muscle diseases which have three features in common: they are hereditary; they are progressive; and each causes a characteristic, selective pattern of weakness. This fact sheet deals only with the Duchenne type muscular dystrophy (DMD) and Becker type muscular dystrophy (BMD). Please contact the Muscular Dystrophy Association for information about other types of muscular dystrophy and related neuromuscular disorders. Why are DMD and BMD discussed together? DMD and BMD cause similar patterns of weakness and disability and are inherited in the same way. Weakness and disability are more severe in DMD and in BMD. Becker dystrophy is like a less severe form of Duchenne dystrophy. Recently it was shown that DMD and BMD are due to defects of the same gene. The normal function of the gene is to enable muscle fibres to make a particular chemical substance, a protein called dystrophin. Muscle fibres in people affected with DMD are extremely deficient in dystrophin, in BMD the deficiency is less severe. DUCHENNE MUSCULAR DYSTROPHY (DMD) What would make a doctor suspect Duchenne Dystrophy (DMD)?

18. MYOTONIC MUSCULAR DYSTROPHY Unlike any of the other muscular dystrophies, the muscle weakness is accompanied by myotonia (delayed relaxation of muscles after contraction) and by a variety http://www.mda.org.au/specific/mdamyt.html

FACT SHEET MYOTONIC DYSTROPHY What Is Muscular Dystrophy? There are a number of different types of muscular dystrophy. They are muscle diseases which have three features in common; they are hereditary, they are progressive; and each causes a characteristic, selective pattern of muscle wasting and weakness. This fact sheet deals only with Myotonic Dystrophy. The Muscular Dystrophy Association deals with a wide variety of disorders which affect muscles, nerves which control muscles and the interactions between the two. Please contact the MDA for further information. What is Myotonic Dystrophy? Myotonic dystrophy is the most common adult form of muscular dystrophy. Myotonic dystrophy is caused by a defective gene. Unlike any of the other muscular dystrophies, the muscle weakness is accompanied by myotonia (delayed relaxation of muscles after contraction) and by a variety of abnormalities in addition to those of muscle. The disorder is also known as Steinert's disease and dystrophia myotonica. Is the myotonia a serious problem?

19. Muscular Dystrophy / Atrophy Muscular Dystrophy / Atrophy. Information for nonscientists on muscular dystrophies, Leiden University Medical Center, Netherlands; http://www.kumc.edu/gec/support/muscular.html

Muscular Dystrophy / Atrophy Duchenne Muscular Dystrophy (pseudo- hypertrophic) Becker Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy (Landouzy-Dejerine) Limb-Girdle Muscular Dystrophy (including Juvenile Dystrophy of Erb) Ophthalmoplegic Muscular Dystrophy Distal Muscular Dystrophy Muscular Dystrophy of Late Onset Myotonic Dystrophy (Steinert's Disease) Congenital Muscular Dystrophy Myotonias: Myotonia Congenita (Thomsen's Disease), Paramyotonia Congenital Metabolic Disease of Muscle: Phosphorylase Deficiency (McArdle's Disease), Acid Maltase Deficiency (Pompe's Disease), Phosphofructokinase Deficiency (Tarul's Disease), Debrancher Enzyme Deficiency (Con's or Forbe's Disease), Carnitine Deficiency, Carnitine Polmityltransferase Deficiency, Periodic Paralysis. Less Common Myopathies: Central Core Disease, Nemoline Myopathy, Mitochondrial Disease, Myotubular Myopathy, ldiopathic Myopathy, Malignant Hyperthermia (Hyperprexia). Disorders of the Motor Neurone: Spinal Muscular Atrophies: Motor Neurone Disease Infantile Progressive Spinal Muscular Atrophy (Werdnig-Hoffmann Disease), Juvenile Progressive Muscular Atrophy (Kugelberg- Welander Disease)

20. Calpain-3 evidence that LGMD2A results from the loss of proteolysis of substrates by calpain-3, suggesting a novel molecular mechanism leading to muscular dystrophies. http://www.dmd.nl/capn3_home.html

Leiden Muscular Dystrophy pages Calpain-3 (last modified January 23, 2004) NOTE This page is still under construction and currently only contains a listing of all sequence variations found in the calpain-3 (CAPN3) gene in Limb-Girdle Muscular Dystrophy type 2A patients. Contents Summary The calpain-3 gene summary table The calpain-3 mRNA alpha-sarcoglycan expression The calpain-3 protein alpha-sarcoglycan antibodies calpain-3 and disease: sequence variations : variations and polymorphisms Miscellaneous DNA-primers RNA-primers calpain-3 sequences Summary The calpain-3 gene Links to other databases: Gene Symbol nomenclature Locus Link db OMIM Gene Map GDB The human calpain-3 gene ( Gene Symbol , alias p94) localizes to chromosome 15q15.1-15.3 and has 24 exons spanning some 53 kb of DNA. The gene is exceptional by having many rather small exons; 10 exons are only 58-86 bp, while exons 12, 15 and 14 are even smaller, 12, 18 and 37 bp resp. Most introns vary in size between 0.2-2.6 kb. Exceptional are introns 18 and 20, measuring below 100 bp, and intron 1, with a size of 24.3 kb covering about half of the gene. Markers around the gene include D5S514, D5S779, CAPN3, D5S782, D5S780 and D5S778.

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