Megaconial congenital muscular dystrophy: Same novel homozygous mutation in CHKB gene in two unrelated Chinese patients
Author:
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 rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis;Sher;J Biol Chem,2006
3. A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis;Mitsuhashi;Am J Hum Genet,2011
4. Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients;Haliloglu;J Inherit Metab Dis,2015
5. Congenital megaconial myopathy due to a novel defect in the choline kinase beta gene;Gutiérrez Ríos;Arch Neurol,2012
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