Dominantly inherited mild diease associating congenital muscle weakness, proximal joint contractures and marked distal joint hyperextensibility. Bethlem myopathy shows clear dominant inheritance and is caused by heterozygous mutations in COL6A1, COL6A2 and COL6A3.
Etiology
heterozygous mutations in COL6s collagen genes (COL6A1, COL6A2 and COL6A3)
Home > E. Pathology by systems > Locomotory system > Muscles
Muscles
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Bethlem myopathy
24 January 2005 -
muscular lymphocytic infiltration
27 November 2004See also
muscular lesions
muscular cellular infiltrations
lymphocytic infiltrations -
muscular infiltrations
27 November 2004Types
muscular lymphocytic infiltration
muscular plasmacytic infiltration
muscular tumoral infiltration
See also
muscles muscular lesions -
muscular lesions
27 November 2004Types
muscular atrophy
muscular infiltrations muscular lymphocytic infiltration muscular plasmacytic infiltration
muscular fibrosis
myocytic lesions
muscular interstitial lesions -
Myositis
23 November 2004Definition: muscular inflammation or muscular infiltration by inflammatory cells.
Etiology
infectious myositis viral myositis bacterial myositis parasitic myositis
inflammatory myopathies
dysferlin-associated muscular dystrophy -
intramuscular myofibroma
19 November 2004intramuscular solitary myofibroma
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Brody myopathy
1 November 2004MIM.601003
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facioscapulohumeral muscular dystrophy
13 October 2004FSHD
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myoblasts
24 August 2004Myoblasts undergo an intercellular fusion for the generation of multinucleated muscle fibers during skeletal muscle development.
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muscular diseases
1 June 2004