Article
Minicore myopathy in children: a clinical and histopathological study of 19 cases.
Neuromuscular disorders : NMD - 1 Jun 2000
Jungbluth H, Sewry C, Brown S C, Manzur A Y, Mercuri E, Bushby K, Rowe P, Johnson M A, Hughes I, Kelsey A, Dubowitz V, Muntoni F
Abstract excerpt
Minicore myopathy is a congenital myopathy characterized by multifocal areas of degeneration in muscle fibres. Genetic heterogeneity expected on the basis of clinical variability awaits further resolution. We reviewed 19 cases in order to further delineate the phenotype. Marked hypotonia was the predominant presenting feature, with evidence of antenatal onset in 30% of cases. Weakness was most pronounced axially...
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