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 available from this repository)

The full text of this publication is not available from this repository. (Contact us about this Publication)
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: 22 Sep 2009 12:33
Resource URI: http://kar.kent.ac.uk/id/eprint/18209 (The current URI for this page, for reference purposes)
  • Depositors only (login required):