Congenital muscular dystrophy and cerebellar atrophy.

Echenne, B; Rivier, F; Tardieu, M; Brive, M; Robert, A; Pages, A M; Pons, F; Mornet, D · Neurology · 1998

case_series · Level IV

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Abstract

Two siblings and two other unrelated patients had congenital muscular weakness and dystrophic changes but normal immunocytochemical stainings for merosin, dystrophin, and dystrophin-related proteins on muscle biopsy. All had marked ataxia and cerebellar atrophy or hypoplasia. Cerebral white matter and cortical organization appeared normal.

Medical subject headings