Muscular dystrophy and myopathy_Paediatric

Gene: MSTO1

Green List (high evidence)

Impaired mitochondrial fusion disorder. Multiple families reported with bi-allelic variants and childhood-onset muscular dystrophy, corticospinal tract dysfunction and early-onset non-progressive cerebellar atrophy. One family reported with heterozygous variant in this gene, gene-disease association for mono allelic variants not well established.

Created: 17 Jan 2022, 4:09 a.m. | Last Modified: 17 Jan 2022, 4:09 a.m.

Panel Version: 0.10640

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myopathy, mitochondrial, and ataxia, MIM# 617675

Publications

• 28554942
• 28544275
• 31604776
• 31463572
• 31130378
• 30684668
• 29339779

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

Comment when marking as ready: Green for bi-allelic disease.

Created: 24 Jun 2020, 9:20 a.m. | Last Modified: 24 Jun 2020, 9:20 a.m.

Panel Version: 0.42

Green List (high evidence)

>5 families reported. Early onset, elevated CK levels and myopathic patterns on EMG reported in almost all patients. Primarily a recessive disorder. Limited evidence supporting AD inheritance, which was reported in one family where CK levels were normal and age of onset was later.

PMID: 31604776: One patient reported. Provides review of previously published MSTO1 families.
Sources: Expert Review

Created: 24 Jun 2020, 3:48 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myopathy, mitochondrial, and ataxia (MIM#617675)

Publications

• 28554942
• 28544275
• 31604776

Green List (high evidence)

Onset usually in early childhood.
Sources: Expert list

Created: 16 Apr 2020, 11:48 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myopathy, mitochondrial, and ataxia MIM#617675