Disease: Muscular dystrophy- congenital- megaconial type
- Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients
- Coexistence of Megaconial Congenital Muscular Dystrophy and Cystinuria: Mimicking Hypotonia-Cystinuria Syndrome
- Functional rescue in a mouse model of congenital muscular dystrophy with megaconial myopathy
- Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene
- Megaconial congenital muscular dystrophy due to CHKB gene variants, the first report of thirteen Iranian patients
- Megaconial congenital muscular dystrophy: Same novel homozygous mutation in CHKB gene in two unrelated Chinese patients
- Mitochondrial dysfunction in neuromuscular disorders
- Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB
- Reduced mitochondrial fission and impaired energy metabolism in human primary skeletal muscle cells of Megaconial Congenital Muscular Dystrophy
- Skin biopsy findings in megaconial congenital muscular dystrophy with psoriasiform lesions due to variants in CHKB