Associated Papers
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene.
Wu T et al.
Molecular Genetics & Genomic Medicine, 2023
Megaconial congenital muscular dystrophy due to CHKB gene variants, the first report of thirteen Iranian patients.
Zemorshidi F et al.
Neuromuscular Disorders : Nmd, 2023
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
Choline Kinase Beta-Related Muscular Dystrophy, Appearance of Muscle Involvement on Magnetic Resonance Imaging.
De Goede C et al.
Pediatric Neurology, 2016
Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies.
Yis U et al.
Biomed Research International, 2016
Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β.
Mitsuhashi S et al.
Current Opinion in Neurology, 2013
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