Abstract
Mutations in the FHL1 have been associated with diverse chronic myopathies including late onset X-linked axial and scapuloperoneal myopathy with bent spine syndrome, reducing body myopathy, X-linked dominant scapuloperoneal muscular dystrophy, rigid spine syndrome, and contractures and cardiomyopathy mimicking Emery-Dreifuss muscular dystrophy. Myofibrillar myopathies (MFMs) are morphologically distinct but genetically heterogeneous muscular dystrophies arising from mutations in Z-disk related proteins.
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