Details of Disease | DrugMAP

General Information of Disease (ID: DIS1YBKF)

Disease Name	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
Disease Hierarchy	DIS9SA7V: Mitochondrial myopathy DIS1YBKF: Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
Disease Identifiers	MONDO ID MONDO_0020714 UMLS CUI C5193223 MedGen ID 1679560

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FDX2	OT4KF6Q5	Strong	Autosomal recessive	[1]
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References

1	Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy. Eur J Hum Genet. 2014 Jul;22(7):902-6. doi: 10.1038/ejhg.2013.269. Epub 2013 Nov 27.