Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB-Reference-Cited by-同舟云学术

Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB

Published:2016-02 Issue:2 Volume:26 Page:160-164
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Brady L.,Giri M.^ORCID,Provias J.,Hoffman E.,Tarnopolsky M.

Publisher

Elsevier BV

Subject

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

Reference16 articles.

1. A new congenital muscular dystrophy with mitochondrial structural abnormalities;Nishino;Muscle Nerve,1998

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

3. A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis;Sher;J Biol Chem,2006

4. Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β;Mitsuhashi;Curr Opin Neurol,2013

5. Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype;Quinlivan;Neuromuscul Disord,2013

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Megaconial congenital muscular dystrophy due to CHKB gene variants, the first report of thirteen Iranian patients;Neuromuscular Disorders;2023-07

2. Large heterozygous deletion and uniparental disomy masquerading as homozygosity inCHKBgene;Molecular Genetics & Genomic Medicine;2023-03-10

3. Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review;Skeletal Muscle;2022-09-29

4. Reduced mitochondrial fission and impaired energy metabolism in human primary skeletal muscle cells of Megaconial Congenital Muscular Dystrophy;Scientific Reports;2021-09-13

5. Acupuncture alleviates chronic pain and comorbid conditions in a mouse model of neuropathic pain: the involvement of DNA methylation in the prefrontal cortex;Pain;2020-08-06