UCL logo

UCL Discovery

UCL home » Library Services » Electronic resources » UCL Discovery

Differential diagnosis of congenital muscular dystrophies

Klein, A; Clement, E; Mercuri, E; Muntoni, F; (2008) Differential diagnosis of congenital muscular dystrophies. EUR J PAEDIATR NEURO , 12 (5) 371 - 377. 10.1016/j.ejpn.2007.10.002.

Full text not available from this repository.

Abstract

Congenital muscular dystrophies (CMDs) are defined by signs of muscle weakness in the first 6 months of life with myopathic changes in muscle biopsy. The progress in the last decade has helped to make molecular and genetic diagnoses in the majority of patients fulfilling these criteria. in a number of patients a definite diagnosis cannot be reached and these individuals are often grouped together as "merosin positive" congenital muscular dystrophy. In the last 5 years, 25 patients referred for assessment as possible congenital muscular dystrophy have been found to have alternative diagnoses. This paper aims to highlight these conditions as the common differentials or more difficult to diagnoses to consider in patients presenting as CMD. (C) 2007 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Type: Article
Title: Differential diagnosis of congenital muscular dystrophies
DOI: 10.1016/j.ejpn.2007.10.002
Keywords: congenital muscular dystrophy, early presentation, differential diagnosis, congenital myopathy, arthrogryposis, Emery-Dreifuss muscular dystrophy, MARINESCO-SJOGREN-SYNDROME, CENTRAL CORE DISEASE, UNIQUE ULTRASTRUCTURAL FEATURE, MENTAL-RETARDATION, SEVERE PHENOTYPE, LOWER-LIMBS, MUTATIONS, MYOPATHY, ONSET, DOMINANT
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/54686
Downloads since deposit
0Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item