Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype-Reference-Cited by-同舟云学术

Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype

Published:2009-03 Issue:3 Volume:19 Page:182-188
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Vuillaumier-Barrot S.,Quijano-Roy S.,Bouchet-Seraphin C.,Maugenre S.,Peudenier S.,Van den Bergh P.,Marcorelles P.,Avila-Smirnow D.,Chelbi M.,Romero N.B.,Carlier R.Y.,Estournet B.,Guicheney P.,Seta N.

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference35 articles.

1. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy;Kobayashi;Nature,1998

2. Novel mutations and genotype–phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD);Kondo-Iida;Hum Mol Genet,1999

3. Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations;Fukuyama;Brain Dev,1981

4. Muscle–eye–brain disease (MEB);Santavuori;Brain Dev,1989

5. Diagnostic criteria for Walker–Warburg syndrome;Dobyns;Am J Med Genet,1989

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