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- W1978132373 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. Because some pathologic features of the FHL1 dystrophies and the MFMs overlap, we searched for mutations in FHL1 in our cohort of 50 genetically undiagnosed MFM patients. We detected two novel and one previously identified missense mutation in five. Two mutations are in the second LIM domain and one is outside the LIM domains of FHL1. All but one patient presented with progressive muscle weakness; one had hypertrophied muscles, rigid spine, and joint contractures, and one also had a peripheral neuropathy. Patients harboring LIM2 domain mutations also display menadione-NBT positive reducing bodies whereas the patient whose mutation falls outside the LIM domains has no reducing bodies. On high resolution EM, the reducing bodies are composed of 13-nm tubulofilaments that initially emanate from Z-disks. At a more advanced stage, there is myofibrillar disintegration, appearance of myriad reducing bodies in the sarcoplasm and many nuclei, accumulation of cytoplasmic degradation products, and aggregation of endoplasmic reticulum and sarcotubular profiles. The clinical and histologic features of the FHL1 dystrophies can be typical of MFMs. Mutations in the second FHL1 LIM domain are associated with reducing bodies whereas a mutation outside the LIM domains resulted in a milder phenotype with late onset, typical MFM histology, but no reducing bodies." @default.
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- W1978132373 date "2011-10-01" @default.
- W1978132373 modified "2023-09-23" @default.
- W1978132373 title "P5.52 Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy" @default.
- W1978132373 doi "https://doi.org/10.1016/j.nmd.2011.06.1081" @default.
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