机译:Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review
IRCCS Fdn Ca Granda Osped Maggiore Policlin;
Univ Milan;
IRCCS Fdn Ca Granda Osped Maggiore PoliclinIRCCS Fdn Ca Granda Osped Maggiore PoliclinIRCCS Fdn Ca Granda Osped Maggiore Policlin;
Choline kinase beta (CHKB); Megaconial congenital muscular dystrophy; Enlarged mitochondria; Mitochondrial dynamics; CHOLINE KINASE BETA; DEFECT; MUTATIONS; MYOPATHY; MITOCHONDRIA; SKELETAL; GENE;