Cytoplasmic body myopathy revisited

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Some 35 years ago, we published clinical and muscle biopsy findings of a then 14-year-old girl of slender build, general muscle atrophy, and weakness. On histological examination she had abundant cytoplasmic bodies in the biopsy specimen of her quadriceps muscle. At the time, we labelled her condition „Congenital myopathy with cytoplasmic bodies“ [1]. These cytoplasmic bodies were later found to contain desmin, the striated muscle-specific intermediate filament [2]. Recently we performed Whole Exome Sequencing in patients with hitherto genetically unsolved neuromuscular disorders.

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