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Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin

Wallgren-Pettersson, C; Pelin, K; Nowak, KJ; Muntoni, F; Romero, NB; Goebel, HH; North, KN; ... ENMC Int Consortium Nemaline Myop, ; + view all (2004) Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. NEUROMUSCULAR DISORD , 14 (8-9) 461 - 470. 10.1016/j.nmd.2004.03.006.

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Abstract

We present comparisons of the clinical pictures in a series of 60 patients with nernaline myopathy in whom mutations had been identified in the genes for nebulin or skeletal muscle alpha-actin. In the patients with nebulin mutations, the typical form of nemaline myopathy predominated, while severe, mild or intermediate forms were less frequent. Amosomal recessive inheritance had been verified or appeared likely in all nebulin cases. In the patients with actin mutations, the severe form of nemaline myopathy was the most common, but some had the mild or typical form, and a few showed other associated features such as intranuclear rods or actin accumulation. Most cases were sporadic, but in addition there were instances of both autosomal dominant and amosomal recessive inheritance, while two families showed mosaicism for dominant mutations. Although no specific phenotype was found to be associated with mutations in either gene, clinical and histological features together with pedigree data may be used in guiding mutation detection. Finding the causative mutation(s) determines the mode of inheritance and permits prenatal diagnosis if requested, but will not as such permit prognostication. (C) 2004 Elsevier B.V. All rights reserved.

Type: Article
Title: Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin
DOI: 10.1016/j.nmd.2004.03.006
Keywords: nemaline (rod) myopathy, mutation, mosaicism, CONGENITAL MYOPATHY, NONSENSE MUTATION, SH3 DOMAIN, EXON, TPM3, EXPRESSION, PATIENT, ROLES, ACTA1
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/105254
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