Article
Reducing body myopathy associated with the LIM2 p.(His123Arg) FHL1 variant.
Clinical neurology and neurosurgery - 1 Aug 2021
Darki Leila, Jalali-Sohi Arash, Guzman Samuel, Mathew Anna J, Bucelli Robert C, Hurth Kyle M, Beydoun Said R
Abstract excerpt
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 fatal to adult onset progressive muscle weakness. We present herein the clinical, electrodiagnostic, and muscle biopsy findings of a 17-year-old female with progressive...
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