Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: CHKB
3/47 affected individuals have been diagnosed with adolescent-onset limb-girdle muscular dystrophy. 2 presented with rhabdomyolysis. 1 had mild intellectual disability. Behaviour abnormalities and dilated cardiomyopathy were not observed.
Sources: LiteratureCreated: 2 Jun 2023, 12:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
megaconial type congenital muscular dystrophy MONDO:0011246; CHKB-Related Muscular Dystrophy
Publications
Congenital muscular dystrophy characterized by early-onset muscle wasting, intellectual disability, raised CK. Perinatal presentation. At least 15 individuals reported.Created: 15 Nov 2021, 1:02 a.m. | Last Modified: 15 Nov 2021, 1:02 a.m.
Panel Version: 0.9730
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, congenital, megaconial type, MIM# 602541
Publications
Gene: chkb has been classified as Amber List (Moderate Evidence).
Gene: chkb has been classified as Amber List (Moderate Evidence).
gene: CHKB was added gene: CHKB was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHKB were set to 37011121 Phenotypes for gene: CHKB were set to megaconial type congenital muscular dystrophy MONDO:0011246; CHKB-Related Muscular Dystrophy Review for gene: CHKB was set to AMBER