myopathy distal type 4

myopathy distal type 4

A slowly progressive autosomal dominant muscular disorder (OMIM:614065) characterised by distal muscle weakness and atrophy affecting the extremities. Onset is in early adulthood, and patients remain ambulatory despite long disease duration. Muscle biopsy shows nonspecific changes with no evidence of rods, necrosis or inflammation.

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