HNRNPDL-related limb-girdle muscular dystrophy D3

Orpha code: 55596OMIM code: 609115

Definicja

A rare, mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.

Disease data
Klasyfikacja

Disease

Synonimy
Autosomal dominant limb-girdle muscular dystrophy type 1G
LGMD1G
HNRNPDL-related LGMD D3
LGMD type 1G
LGMD1G
Limb-girdle muscular dystrophy type 1G
Kod ORPHA
55596
Kod OMIM
609115
Kod ICD10
-
Kod ICD11
-

No additional description.

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