Exome sequencing identifies a CHKB mutation in Spanish patient with Megaconial Congenital Muscular Dystrophy and mtDNA depletion-Reference-Cited by-同舟云学术

Exome sequencing identifies a CHKB mutation in Spanish patient with Megaconial Congenital Muscular Dystrophy and mtDNA depletion

Published:2014-11 Issue:6 Volume:18 Page:796-800
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Castro-Gago Manuel,Dacruz-Alvarez David,Pintos-Martínez Elena,Beiras-Iglesias Andrés^ORCID,Delmiro Aitor,Arenas Joaquín,Martín Miguel Ángel,Martínez-Azorín Francisco

Funder

Spanish Ministerio de Ciencia e Innovación, Instituto de Salud Carlos III (ISCIII)

Publisher

Elsevier BV

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference14 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. 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

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

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

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

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