limb-girdle muscular dystrophy 2Q

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limb-girdle muscular dystrophy 2Q2016-11-26T21:26:44+00:00

limb-girdle muscular dystrophy 2Q

NEUROLOGY

Definition A form (OMIM:613723) of muscular dystrophy* characterised by early childhood onset of proximal muscle weakness.

*Limb-girdle muscular dystrophies are characterised by proximal weakness–i.e., of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy

Molecular pathology Defects of PLEC, which encodes plectin, a structural protein of muscle that links intermediate filaments and muscle proteins and plays a role in regulating IF network dynamics, cause limb-girdle muscular dystrophy 2Q. 

References http://www.uniprot.org/uniprot/Q15149

http://www.omim.org/entry/613723

 

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