Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: Extending the clinical and pathological phenotype-Reference-Cited by-同舟云学术

Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: Extending the clinical and pathological phenotype

Published:2013-07 Issue:7 Volume:23 Page:549-556
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Quinlivan Ros,Mitsuahashi Satomi,Sewry Caroline,Cirak Sebahattin,Aoyama Chieko,Mooore David,Abbs Stephen,Robb Stephanie,Newton Tina,Moss Celia,Birchall Daniel,Sugimoto Hiroyuki,Bushby Kate,Guglieri Michela,Muntoni Francesco,Nishino Ichizo,Straub Volker

Publisher

Elsevier BV

Subject

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

Reference16 articles.

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2. A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis;Mitsuhashi;Am J Hum Genet,2011

3. Congenital megacolonial myopathy due to a novel defect in the choline kinase beta gene;Rios;Arch Neurol,2012

4. Molecular biology of the cell;Alberts,2002

5. Structure and function of choline kinase isoforms in mammalian cells;Aoyama;Prog Lipid Res,2004

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