Multicore myopathy, microcephaly, aganglionosis, and short stature - PubMed (original) (raw)
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Multicore myopathy, microcephaly, aganglionosis, and short stature
J J Kim et al. J Child Neurol. 1994 Jul.
Abstract
Multicore myopathy, classified with the benign congenital myopathies, is manifest clinically as proximal muscle weakness, hypotonia, and delayed motor development. We report an unusual case of multicore myopathy with an expanded clinical syndrome involving the central nervous system, as well as additional congenital malformations. Clinical manifestations included microcephaly, mental retardation, spasticity with hyperreflexia, cerebellar dysfunction, short stature, Hirschsprung's disease, pharyngeal web, and facial dysmorphism.
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