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

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 inv...

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Bibliographic Details
Published in:Journal of neurology, neurosurgery and psychiatry neurosurgery and psychiatry, 1997-03, Vol.62 (3), p.279-281
Main Authors: Nashef, L, Lake, B D, Schapira, A H
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Diseases of striated muscles. Neuromuscular diseases
Female
Humans
Intellectual Disability
Male
Medical sciences
Muscular Dystrophies - congenital
Neurology
Nuclear Family
Torticollis
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Summary: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.
ISSN:0022-3050
1468-330X
DOI:10.1136/jnnp.62.3.279