Associated Papers
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review.
Magri F et al.
Skeletal Muscle, 2022
36175989 (PubMed )
Supplement: 13395_2022_306_MOESM1_ESM.pdf
Reduced mitochondrial fission and impaired energy metabolism in human primary skeletal muscle cells of Megaconial Congenital Muscular Dystrophy.
Aksu-Menges E et al.
Scientific Reports, 2021
Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients.
Haliloglu G et al.
Journal of Inherited Metabolic Disease, 2015
Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β.
Mitsuhashi S et al.
Current Opinion in Neurology, 2013
A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.
Mitsuhashi S et al.
American Journal of Human Genetics, 2011
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