Bethlem myopathy
Bethlem myopathy is an autosomal dominant myopathy, classified as a congenital form of muscular dystrophy, that is caused by a mutation in one of the three genes coding for type VI collagen. These include COL6A1, COL6A2, and COL6A3. Gower's sign, tiptoe-walking and contractures of the joints (especially the fingers) are typical signs and symptoms of the disease. Bethlem myopathy could be diagnosed based on clinical examinations and laboratory tests may be recommended. Currently there is no cure for the disease and symptomatic treatment is used to relieve symptoms and improve quality of life. Bethlem myopathy affects about 1 in 200,000 people.
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Bethlem myopathy
Bethlem myopathy is an autosomal dominant myopathy, classified as a congenital form of muscular dystrophy, that is caused by a mutation in one of the three genes coding for type VI collagen. These include COL6A1, COL6A2, and COL6A3. Gower's sign, tiptoe-walking and contractures of the joints (especially the fingers) are typical signs and symptoms of the disease. Bethlem myopathy could be diagnosed based on clinical examinations and laboratory tests may be recommended. Currently there is no cure for the disease and symptomatic treatment is used to relieve symptoms and improve quality of life. Bethlem myopathy affects about 1 in 200,000 people.
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Bei der Bethlem-Myopathie hand ...... ger als 100 Fälle beschrieben.
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Bethlem myopathy is an autosom ...... cts about 1 in 200,000 people.
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La myopathie de Bethlem est un ...... e, utilisés pour le mouvement.
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La sindrome di Bethlem (o miop ...... o apparso sulla rivista Brain.
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1,019,838,930
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Bethlem myopathy has an autosomal dominant pattern of inheritance
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G71.2
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Bethlem myopathy
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Bei der Bethlem-Myopathie hand ...... ger als 100 Fälle beschrieben.
@de
Bethlem myopathy is an autosom ...... cts about 1 in 200,000 people.
@en
La myopathie de Bethlem est un ...... e, utilisés pour le mouvement.
@fr
La sindrome di Bethlem (o miop ...... o apparso sulla rivista Brain.
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Bethlem myopathy
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Bethlem-Myopathie
@de
Myopathie de Bethlem
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Sindrome di Bethlem
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Bethlem myopathy
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