muscular dystrophy limb-girdle 2G

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muscular dystrophy limb-girdle 2G2016-11-27T12:46:52+00:00

muscular dystrophy limb-girdle 2G 

NEUROLOGY

A rare autosomal recessive degenerative myopathy (OMIM:601954) characterised by proximal and distal muscle weakness and atrophy in the limbs, dystrophic changes on muscle biopsy, and absence of telethonin (titin cap); cardiac muscle is involved in some patients.

Molecular pathology Defects of TCAP, which encodes a protein that regulates muscle assembly, cause limb-girdle muscular dystrophy 2G.

Synonyms Limb girdle muscular dystrophy 2G (autosomal recessive), CMD1N, telethonin, LGMD2G, titin cap protein, T-cap, 19 kDa sarcomeric protein, TELE

References http://www.uniprot.org/uniprot/O15273

http://www.omim.org/entry/601954

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