Gene/Protein
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Pivot Concepts:
Gene/Protein
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Target Concepts:
Gene/Protein
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Query: UMLS:C0700208 (
scoliosis
)
8,574
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The clinical, electromyographic, and histologic characteristics of a 17-year-old girl with reducing body myopathy are described. She is, to our knowledge, the oldest reported case and the only patient described with severe mitral valve prolapse and
scoliosis
. Electromyography demonstrated spontaneous positive sharp waves and fibrillation potentials with many low-amplitude, short, polyphasic motor unit potentials. The right deltoid muscle was characterized by focal areas with large fibers associated with increased endomysial connective tissue and "split" fibers. Purple-gray sarcoplasmic masses stained with trichrome were PAS-negative, appeared as "empty" spaces with both ATPase and NADH-TR, and stained darkly with menadione
NBT
. The features described expand the clinical presentation of this myopathy, and may lead to a better understanding of its etiology.
...
PMID:A unique case of reducing body myopathy. 131 27
