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Congenital muscular dystrophy with short stature, proximal contractures and distal laxity

Mercuri, E; Lampe, A; Straub, V; Yuva, Y; Longman, C; Wright, M; Brown, S; ... Muntoni, F; + view all (2004) Congenital muscular dystrophy with short stature, proximal contractures and distal laxity. NEUROPEDIATRICS , 35 (4) 224 - 229. 10.1055/s-2004-821084.

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Abstract

We report 5 cases (2 familial and 3 sporadic) who share a diagnosis of congenital muscular dystrophy (CMD) in association with short stature, proximal contractures, rigidity of the spine and distal joint laxity as well as early respiratory failure and mild to moderate mental retardation. The expression of collagen VI was confirmed to be normal on muscle biopsies of all 5 patients and in the informative family linkage to any of the three COL6 A loci was excluded. These findings extend the phenotypes within the CMD classification.

Type: Article
Title: Congenital muscular dystrophy with short stature, proximal contractures and distal laxity
DOI: 10.1055/s-2004-821084
Keywords: congenital muscular dystrophy, short stature, mental retardation, distal laxity, MENTAL-RETARDATION, GENE CAUSES, MUTATIONS, VI, PHENOTYPE, DISEASE
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Developmental Neurosciences Prog
URI: http://discovery.ucl.ac.uk/id/eprint/58936
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