NovelCHKBmutation expands the megaconial muscular dystrophy phenotype-Reference-Cited by-同舟云学术

NovelCHKBmutation expands the megaconial muscular dystrophy phenotype

Published:2014-11-22 Issue:1 Volume:51 Page:140-143
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Cabrera-Serrano Macarena¹²,Junckerstorff Reimar C.³⁴,Atkinson Vanessa⁵,Sivadorai Padma⁵,Allcock Richard J.⁶⁷,Lamont Phillipa⁸,Laing Nigel G.¹

Affiliation:

1. Centre for Medical Research; University of Western Australia, Harry Perkins Institute of Medical Research; QQ Block, QEII Medical Centre, 6 Verdun Street Perth Western Australia 6009 Australia

2. Instituto de Biomedicina de Sevilla; Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla; Seville Spain

3. Section of Neuropathology; PathWest Laboratory Medicine Western Australia; Royal Perth Hospital; Perth Western Australia Australia

4. Pathology and Laboratory Medicine; University of Western Australia; Perth Western Australia Australia

5. Department of Diagnostic Genomics; Pathwest Laboratory Medicine Western Australia; Perth Western Australia Australia

6. Lotterywest State Biomedical Facility Genomics and School of Pathology and Laboratory Medicine; University of Western Australia; Perth Western Australia Australia

7. Department of Clinical Immunology; Pathwest Laboratory Medicine Western Australia; Royal Perth Hospital; Perth Western Australia Australia

8. Neurogenetic Unit; Department of Neurology; Royal Perth Hospital; Perth Western Australia Australia

Funder

Fundacion Alfonso Martin Escudero

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology

Reference12 articles.

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

2. Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy;Mitsuhashi;Hum Mol Genet,2011

3. Two childhood myopathies with abnormal mitochondria;Shy;I. Megaconial myopathy. II. Pleoconial myopathy. Brain,1966

4. Congenital megaconial myopathy due to a novel defect in the choline kinase beta gene;Gutiérrez-Ríos;Arch Neurol,2012

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 15 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. Defects in integrin complex formation promoteCHKB-mediated muscular dystrophy;Life Science Alliance;2024-05-15

2. Mechanism of action and therapeutic route for a muscular dystrophy caused by a genetic defect in lipid metabolism;Nature Communications;2022-03-23

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

4. Choline Kinase: An Unexpected Journey for a Precision Medicine Strategy in Human Diseases;Pharmaceutics;2021-05-25

5. Genetic diseases of the Kennedy pathways for membrane synthesis;Journal of Biological Chemistry;2020-12