limb-girdle muscular dystrophy type 2L

limb-girdle muscular dystrophy type 2L

A rare autosomal recessive degenerative myopathy (OMIM:611307) characterised by proximal weakness, weakness of the hip and shoulder girdles, and prominent asymmetrical quadriceps femoris and biceps brachii atrophy.

Molecular pathology
Defects of ANO5, which encodes a calcium-activated chloride channel, cause limb-girdle muscular dystrophy type 2L.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
Mentioned in ?