POMT2-related limb-girdle muscular dystrophy R14

Orpha code: 206559OMIM code: 613158

Definition

A form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence (or mild intellectual disability).

Disease data
Classification

Disease

Synonyms
Autosomal recessive limb-girdle muscular dystrophy type 2N
LGMD2N
LGMD type 2N
LGMD2N
Limb-girdle muscular dystrophy type 2N
POMT2-related LGMD R14
ORPHA code
206559
OMIM code
613158
ICD10 code
G71.0
ICD11 code
-

No additional description.

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