Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: CHRNA1
13 patients from nine unrelated families with acetylcholine receptor deficiency harbouring the CHRNA1 variant NM_001039523.3:c.257G>A (p.Arg86His) in homozygosity or compound heterozygosity with a predominant pattern of distal upper limb weakness in adulthood, similar to distal myopathy.
Sources: LiteratureCreated: 1 Aug 2024, 1:30 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
myasthenic syndrome, congenital, 1B, fast-channel MONDO:0012156
Publications
Variants in this GENE are reported as part of current diagnostic practice
Variants in this gene are associated with myasthenic syndromes, at least 2 families reported with more severe presentation of multiple pterygium syndrome. These conditions represent a spectrum of severity.Created: 15 Nov 2021, 6:19 a.m. | Last Modified: 15 Nov 2021, 6:19 a.m.
Panel Version: 0.9737
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668; Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930
Publications
Gene: chrna1 has been classified as Green List (High Evidence).
Gene: chrna1 has been classified as Green List (High Evidence).
gene: CHRNA1 was added gene: CHRNA1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHRNA1 were set to 36634413 Phenotypes for gene: CHRNA1 were set to myasthenic syndrome, congenital, 1B, fast-channel MONDO:0012156 Review for gene: CHRNA1 was set to GREEN gene: CHRNA1 was marked as current diagnostic