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Phenotypic spectrum associated with mutations in the fukutin-related protein gene

Mercuri, Eugenio, Brockington, Martin, Straub, Volker, Quijano-Roy, Susana, Yuva, Yeliz, Herrmann, Ralf, Brown, Susan C., Torelli, Silvia, Dubowitz, Victor, Blake, Derek J., Romero, Norma B., Estournet, Brigitte, Sewry, Caroline A., Guicheney, Pascale, Voit, Thomas and Muntoni, Francesco 2003. Phenotypic spectrum associated with mutations in the fukutin-related protein gene. Annals of Neurology 53 (4) , pp. 537-542. 10.1002/ana.10559

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We describe 22 patients with mutations in the fukutin-related protein (FKPR) gene. Four patients had congenital muscular dystrophy (MDC1C), with presentation at birth, severe weakness and inability to stand unsupported. The other 18 had limb girdle muscular dystrophy (LGMD2I). Eleven showed a Duchenne-like course with loss of ambulation in the early teens while 7 had a milder phenotype. Muscle biopsy invariably showed abnormal expression of a-dystroglycan. MDC1C patients either carried 2 missense or 1 missense and 1 nonsense mutations. Patients with LGMD2I shared a common mutation (C826A,Leu276Ileu) and their phenotypic severity was correlated with the second allelic mutation.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects: R Medicine > R Medicine (General)
Publisher: Wiley-Blackwell
ISSN: 0364-5134
Last Modified: 04 Jun 2017 05:10

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