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Case Reports
. 1997 Mar;62(3):279-81.
doi: 10.1136/jnnp.62.3.279.

Congenital muscular dystrophy with severe retrocollis and mental retardation: a report of two siblings

L Nashef  1 , B D Lake, A H Schapira
Affiliations
Case Reports

Congenital muscular dystrophy with severe retrocollis and mental retardation: a report of two siblings

L Nashef et al. J Neurol Neurosurg Psychiatry. 1997 Mar.

Abstract

Two siblings with a congenital muscular dystrophy and severe mental retardation which was not due to dystrophin, merosin, or adhalin deficiency are described. These cases overlap with congenital muscular dystrophy of the Fukuyama-type but are less severe. Atypical features include limited facial involvement, retained ambulation, and severe retrocollis.

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