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GENATLAS PHENOTYPE

last update : 07-12-2022

Symbol	MPD4
Location	7q32.1
Name	distal myopathy-4
Other name(s)	Williams distal myopathy
Corresponding gene	FLNC
Main clinical features	slowly progressive muscular disorder characterized by distal muscle weakness and atrophy affecting the upper and lower limbs; onset occurs around the third to fourth decades of life, and patients remain ambulatory even after long disease duration electron microscopy revealed changes compatible with myofibrillar myopathy (PMID: 221315742)2)
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Remark(s)

. actin-binding studies of the two mutant filamin C N-terminal ABD (actin-binding domain) revealed increased affinity for actin and mutant filamin C proteins demonstrated altered nuclear localization and aggregate formation (PMID: 21620354))