Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja 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. Disease data Klasyfikacja Disease Synonimy Autosomal recessive limb-girdle muscular dystrophy type 2G Dystrofia obręczowo-kończynowa z powodu niedoboru teletoniny LGMD2G 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 Kod ORPHA 34514 Kod OMIM 601954 Kod ICD10 G71.0 Kod ICD11 8C70.41 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl