Phenotypic spectrum associated with mutations in the fukutin-related protein gene-Reference-Cited by-同舟云学术

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

Published:2003-03-24 Issue:4 Volume:53 Page:537-542
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

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,Muntoni Francesco

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Reference11 articles.

1. Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan

2. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

3. A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3

4. Muscle biopsy: a practical approach. 2nd ed. London: Bailliere Tindall, 1985.

5. Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal

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