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

Nashef, L. and Lake, B.D. and Schapira, A.H.V. (1997) Congenital muscular dystrophy with severe retrocollis and mental retardation: A report of two siblings. Journal of Neurology, Neurosurgery and Psychiatry, 62 (3). pp. 279-281. ISSN 0022-3050. (The full text of this publication is not currently available from this repository. You may be able to access a copy if URLs are provided)

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Official URL
http://dx.doi.org/10.1136/jnnp.62.3.279

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 al muscular dystrophy of the Fukuyama-type but are less severe. Atypical features include limited facial involvement, retained ambulation, and severe retrocollis.

Item Type: Article
Uncontrolled keywords: congenital muscular dystrophy; retrocollis; mental retardation; congenital muscular dystrophy of Fukuyama-type
Subjects: R Medicine > RD Surgery
R Medicine
Divisions: Faculties > Science Technology and Medical Studies > Kent Institute of Medicine and Health Sciences (KIMHS)
Depositing User: M.A. Ziai
Date Deposited: 22 Sep 2009 12:33
Last Modified: 29 Apr 2014 13:37
Resource URI: https://kar.kent.ac.uk/id/eprint/18209 (The current URI for this page, for reference purposes)
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