POMGNT1-related limb-girdle muscular dystrophy R15
Synonyms: Autosomal recessive limb-girdle muscular dystrophy type 2O | LGMD type 2O | LGMD2O | Limb-girdle muscular dystrophy type 2O | POMGNT1-related LGMD R15
A form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck hip girdle and shoulder abductors) hypertrophy in the calves and quadriceps ankle contractures and myopia.
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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POMGNT1-related limb-girdle muscular dystrophy R15?
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