Bethlem muscular dystrophy
Synonyms: Bethlem myopathy | LGMD D5 collagen 6-related dystrophy | LGMD D5 collagen VI-related dystrophy | LGMD R22 collagen 6-related dystrophy | LGMD R22 collagen VI-related dystrophy | Mild form of COL6-related dystrophy | Mild form of collagen VI-related dystrophy
A form of congenital muscular dystrophy characterized by a congenital to childhood onset of progressive proximal muscle weakness joint contractures and potential respiratory insufficiency in adulthood.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Bethlem muscular dystrophy?
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