Reducing body myopathy
Definition:
Reducing body myopathy (RBM) is a rare, sometimes fatal, X-linked disorder characterized by progressive muscle weakness and the presence of intracytoplasmic aggregates in histological muscle sections which exert a reducing activity on nitro-blue tetrazolium (NBT) staining. The causative gene for RBM is FHL1 encoding four and a half LIM domains.
References:
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[1]. Belinda S Cowling, et al. Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features. Neuromuscul Disord. 2011 Apr;21(4):237-51. [Content Brief]
[2]. S Shalaby, et al. Novel FHL1 mutations in fatal and benign reducing body myopathy. Neurology. 2009 Jan 27;72(4):375-6. [Content Brief]
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