Congenital myopathy

Gene: MB

Red List (low evidence)

Comment on list classification: As the disease onset is typically during adulthood, this gene should be rated red with current evidence.

Created: 23 Dec 2024, 6:51 p.m. | Last Modified: 23 Dec 2024, 6:51 p.m.

Panel Version: 5.11

PMID:30918256 reported the identification of a recurrent c.292C>T (p.His98Tyr) variant in MB gene in fourteen individuals from six families with progressive myopathy with highly characteristic sarcoplasmic inclusions in skeletal and cardiac muscle. The age of onset ranged between 33 and 49 years.

PMID:35527200 reported the first case of myoglobinopathy in an Asian individual and the patient presented with orbicularis oculi muscle weakness, tongue weakness and atrophy, poor movement of the soft palate, and dysarthria. The patient started NPPV 18 years after onset, indicating that an older age of onset may have resulted in slow disease progression.

This gene has been associated with relevant phenotype in OMIM (MIM #620286).

Created: 23 Dec 2024, 6:48 p.m. | Last Modified: 23 Dec 2024, 6:48 p.m.

Panel Version: 5.8

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myopathy, sarcoplasmic body, OMIM:620286

Publications

• 30918256
• 34679218
• 35527200

Red List (low evidence)

Typically adult onset rather than congenital.

Created: 11 Nov 2024, 5:54 a.m. | Last Modified: 11 Nov 2024, 5:54 a.m.

Panel Version: 5.1

Green List (high evidence)

Seven unrelated families reported in the literature with the same His98Tyr variant, with haplotype analysis for six of these families suggesting a recurrent variant on different backgrounds.
Sources: Other

Created: 7 Nov 2024, 2:47 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

• 30918256
• 35527200
• 34679218