Congenital myasthenic syndrome
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Start free with EleplanCongenital myasthenic syndrome with mitochondrial defect
ORPHA:716917Etiological subtype
Also called CMS with mitochondrial defect
What it is
Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.
Key facts
- Inheritance
- Autosomal recessive
- Classified as
- Etiological subtype
Genes
SLC25A1Disease-causing germline mutation(s)
TEFMDisease-causing germline mutation(s)
Cross-references
OMIM 618197OMIM 620451
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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