Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: MATR3
At least 13 families with distal myopathy with vocal cord and pharyngeal weakness reported with the same recurrent missense variant p.Ser85Cys, which has been shown to arise by independent mutational events in multiple populations. A mouse model of the variant recapitulated the multisystem proteinopathy phenotype which includes myopathy. The mechanism of disease is toxic gain of function
Sources: LiteratureCreated: 14 Apr 2023, 6:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
distal myopathy with vocal cord weakness MONDO:0018951
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Amyotrophic lateral sclerosis-21 (ALS21) is an autosomal dominant neurodegenerative disorder affecting upper and lower motor neurons, resulting in muscle weakness and respiratory failure. Some patients may develop myopathic features or dementia.
More than 5 unrelated families reported, functional data.Created: 17 May 2022, 8:41 a.m. | Last Modified: 17 May 2022, 8:41 a.m.
Panel Version: 0.14419
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyotrophic lateral sclerosis 21, MIM# 606070; Distal myopathy
Publications
Gene: matr3 has been classified as Green List (High Evidence).
Gene: matr3 has been classified as Green List (High Evidence).
gene: MATR3 was added gene: MATR3 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: MATR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MATR3 were set to 19344878; 34659085; 25154462; 31056746 Phenotypes for gene: MATR3 were set to distal myopathy with vocal cord weakness MONDO:0018951 Mode of pathogenicity for gene: MATR3 was set to Other Review for gene: MATR3 was set to GREEN gene: MATR3 was marked as current diagnostic