Rhabdomyolysis and Metabolic Myopathy

Gene: SLC25A4

Green List (high evidence)

Mitochondrial disorder presenting as encephalomyopathy but mostly myopathy, both mono-allelic and bi-allelic variants reported. Reviewed in PMID 30013777.

Created: 6 Apr 2022, 10:07 p.m. | Last Modified: 6 Apr 2022, 10:07 p.m.

Panel Version: 0.12673

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283

Publications

• 30046662
• 30013777
• 29654543
• 28823815

Green List (high evidence)

Both de novo and hom variants in this gene have been identified in pediatric onset mitochondrial myopathy patients.

PMID: 27693233; 2 recurrent de novo missense variants reported in 7 patients from 6 families (p.(Arg80His) and p.(Arg235Gly)) with severe early onset mitochondrial disease. Histopathological examination of muscle biopsies from affected individuals showed mitochondrial myopathy.

PMID: 30046662: De novo missense p.(Lys33Gln) reported in a 2 year old girl with mild myopathy.

https://doi.org/10.1016/j.nmd.2016.06.328 (abstract only): Hom nonsense reported in a 8 year old presenting with muscle weakness
Sources: Expert Review

Created: 15 Jun 2020, 4:49 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD (MIM#617184); Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR (MIM#615418)

Publications

• 22187496
• 27693233
• 30046662

Green List (high evidence)

Five unrelated cases reported with exercise intolerance as a presenting feature of the condition.
Sources: Expert list

Created: 29 May 2020, 5:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418

Publications

• 28823815