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Lookup NU author(s): Emerita Professor Katherine Bushby
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Previously, we reported results indicating that nebulin was the gene causing the typical form of autosomal recessive nemaline (rod) myopathy. Here we describe the identification of mutations in the nebulin gene in seven offspring of five families affected by the severe congenital form of nemaline myopathy. One pregnancy was terminated on the grounds of foetal abnormality, while six affected infants died at ages ranging from the first day of life to 19 months. Only three of the six neonates were able to establish spontaneous respiration. Three had arthrogryposis. In three of the five families, the mutations were located in exon 184. These mutations are predicted to cause absence of the C-terminal part of nebulin. (C) 2002 Elsevier Science B.V. All rights reserved.
Author(s): Bushby K; Wallgren-Pettersson C; Donner K; Sewry C; Bijlsma E; Lammens M; Uzielli MLG; Lapi E; Odent S; Akcoren Z; Topaloglu H; Pelin K
Publication type: Article
Publication status: Published
Journal: Neuromuscular Disorders
Year: 2002
Volume: 12
Issue: 7-8
Pages: 674-679
ISSN (print): 0960-8966
ISSN (electronic): 1873-2364
Publisher: Elsevier Ltd
URL: http://dx.doi.org/10.1016/S0960-8966(02)00065-2
DOI: 10.1016/S0960-8966(02)00065-2
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