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.
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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.
|Uncontrolled keywords:||congenital muscular dystrophy; retrocollis; mental retardation; congenital muscular dystrophy of Fukuyama-type|
|Subjects:||R Medicine > RD Surgery
|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:||22 Sep 2009 12:33|
|Resource URI:||http://kar.kent.ac.uk/id/eprint/18209 (The current URI for this page, for reference purposes)|
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