This report describes cardiomyopathy, myopathy, myofibrillar, 5, which is one of several forms of myopathy associated with the human gene FLNC. Information about fly models for this and related diseases can be found in the report 'myopathy, FLNC-related' (FBhh0000670).
[updated Dec. 2017 by FlyBase; FBrf0222196]
Myofibrillar myopathy is characterized by slowly progressive weakness that can involve both proximal and distal muscles. Distal muscle weakness is present in about 80% of individuals and is more pronounced than proximal weakness in about 25%. A minority of individuals experience sensory symptoms, muscle stiffness, aching, or cramps. Peripheral neuropathy is present in about 20% of affected individuals. Overt cardiomyopathy is present in 15%-30%. [from Gene Reviews, Myofibrillar Myopathy; 2017.08.14]
Myofibrillar myopathy (MFM) is a noncommittal term that refers to a group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders. [from MIM:601419; 2017.08.14]
[MYOPATHY, MYOFIBRILLAR, 5; MFM5](https://omim.org/entry/609524)
[FILAMIN C; FLNC](https://omim.org/entry/102565)
Myofibrillar myopathy-5 (MFM5) is caused by heterozygous mutation in the FLNC gene. [from MIM:609524; 2017.12.01]
FLNC is muscle-specific filamin; filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskeleton. FLNC is critical for normal myogenesis and for maintaining the structural integrity of the muscle fibers; may also display structural functions at the Z lines in muscle cells. [from Gene Cards, FLNC; 2017.12.01]
