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GENATLAS PHENOTYPE

last update : 22/08/2006

Symbol	MYFM
Location	7q32.1
Name	myofibrillar myopathy
Corresponding gene	FLNC
Main clinical features	neuromuscular disorder, usually with adult onset, slowly progressive weakening of limb muscles, beginning in the lower extremities, compatible with the clinical signs of limb-girdle muscular dystrophy, creatine kinase levels moderately elevated
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Gene product

Name

filamin C

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
unknown		truncated protein	leads to a partial disturbance of the secondary structure of the dimerization domain , resulting in massive protein aggregation in skeletal muscle fibers

Remark(s)

mutant dimerization domain is less stable and more susceptible to proteolysis; as a consequence, it does not dimerize properly and forms aggregates