Reducing body myopathy associated with the LIM2 p.(His123Arg) FHL1 variant
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DOI: 10.1016/j.clineuro.2021.106795
Abstract: Reducing body myopathy (RBM) is a rare muscle disorder, with marked presence of characteristic intracytoplasmic aggregates in affected muscle fibers. RBM is associated with FHL1 gene mutations. Clinical presentations of RBM have ranged from early… read more here.
Keywords: myopathy associated; muscle; body myopathy; fhl1 ... See more keywords