Telethonin-related limb-girdle muscular dystrophy R7
Synonyms: Autosomal recessive limb-girdle muscular dystrophy type 2G | LGMD due to telethonin deficiency | LGMD type 2G | LGMD2G | Limb-girdle muscular dystrophy due to telethonin deficiency | Limb-girdle muscular dystrophy type 2G | Telethonin-related LGMD R7
A mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging calf hypertrophy and lack of respiratory and cardiac involvement are also observed.
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 June 2023.
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Telethonin-related limb-girdle muscular dystrophy R7?
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Patient Advocate Foundation
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advocate for Rare disease patients and their families
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For a list of clinical trials in this disease area, please click here.