Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: UNC45B

Green List (high evidence)

Onset is within the first decade of life typically indicated by slow progression of proximal muscle weakness.

PMID: 33217308; 31852522
11 individuals from 9 unrelated families with symptoms of progressive proximal muscle weakness.

PMID: 31852522
Muscle biopsy was conducted on one individual which showed myopathic changes with core-like structures
Sources: Other

Created: 10 May 2023, 12:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myofibrillar myopathy 11 (MIM#619178)

Publications

• 33217308
• 31852522

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myofibrillar myopathy 11, MIM# 619178

Comment when marking as ready: 10 individuals from 8 families reported with biallelic variants clinically manifesting with childhood-onset, progressive proximal and axial muscle weakness and various degrees of respiratory insufficiency. 4 missense variants and a +5 splice variant reported, p.Arg754Gln is recurrent. Functional studies support pathogenicity.

Created: 7 Dec 2020, 4:56 a.m. | Last Modified: 7 Dec 2020, 4:56 a.m.

Panel Version: 1.5

Green List (high evidence)

10 individuals from 8 families reported with biallelic variants clinically manifesting with childhood-onset, progressive proximal and axial muscle weakness and various degrees of respiratory insufficiency. 4 missense variants and a +5 splice variant reported, p.Arg754Gln is recurrent. Functional studies support pathogenicity.
Sources: Literature

Created: 7 Dec 2020, 4:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Progressive Myopathy with Eccentric Cores

Publications

• 33217308

Variants in this GENE are reported as part of current diagnostic practice