POMGNT2-related limb-girdle muscular dystrophy R24

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POMGNT2-related limb-girdle muscular dystrophy R24

Synonyms: LGMD type R24 | Limb-girdle muscular dystrophy type R24 | POMGNT2-related LGMD R24 | POMGNT2-related muscular dystrophy

A rare autosomal recessive limb-girdle muscular dystrophy characterized by infantile to adolescent onset of a milder form of limb-girdle muscular dystrophy with or without intellectual disability. Patients present variable proximal limb muscular weakness with calf hypertrophy and elevated serum creatine kinase.

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 March 2024

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POMGNT2-related limb-girdle muscular dystrophy R24?

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