α-Dystroglycan does not play a major pathogenic role in autosomal recessive hereditary inclusion-body myopathy-Reference-Cited by-同舟云学术

α-Dystroglycan does not play a major pathogenic role in autosomal recessive hereditary inclusion-body myopathy

Published:2005-02 Issue:2 Volume:15 Page:177-184
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Broccolini Aldobrando,Gliubizzi Carla,Pavoni Ernesto,Gidaro Teresa,Morosetti Roberta,Sciandra Francesca,Giardina Bruno,Tonali Pietro,Ricci Enzo,Brancaccio Andrea,Mirabella Massimiliano

Publisher

Elsevier BV

Subject

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

Reference35 articles.

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2. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy;Eisenberg;Nat Genet,2001

3. Mutation spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps;Eisenberg;Hum Mutat,2003

4. Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE);Kayashima;J Hum Genet,2002

5. Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene;Tomimitsu;Neurology,2002

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