myopathy—distal—4

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myopathy—distal—42016-11-27T13:14:00+00:00

myopathy—distal—4

NEUROLOGY 

A slowly progressive autosomal dominant muscular disorder (OMIM:614065) characterised by distal muscle weakness and atrophy of the extremities, with an onset in early adulthood; patients remain ambulatory despite long disease duration.

Muscle biopsy Non-specific changes with no evidence of rods, necrosis, or inflammation

Molecular pathology Defects in FLNC, which encodes filamin C, cause myopathy—distal—4. 

Synonyms MPD4, Williams distal myopathy 

References http://www.uniprot.org/uniprot/Q14315

http://www.omim.org/entry/614065 

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