Spotlight on Reducing body myopathy

Dr. Joseph Siebert discusses reducing body myopathy, a rare condition with early infant to adult onset characterized by abnormal inclusions in muscle fibers that are highlighted by special stains. A protein, FHL1, has been identified in these inclusions by proteomic techniques, and mutations in the corresponding gene identified in both sporadic and familial cases. Although the pathophysiology remains poorly understood, inclusions may be involved in processing and assembling ribosomes. Thus, their activity seems to be related intimately to muscle mass and function and leads to progressive muscle weakness, with wasting, and eventual death due to respiratory failure.

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