KEGG DISEASE: Episodic mitochondrial myopathy with or without optic atrophy and reversible leukoencephalopathy

KEGG

DISEASE: Episodic mitochondrial myopathy with or without optic atrophy and reversible leukoencephalopathy

Entry

H02771                      Disease

Name

Episodic mitochondrial myopathy with or without optic atrophy and reversible leukoencephalopathy

Description

Episodic mitochondrial myopathy with or without optic atrophy and reversible leukoencephalopathy (MEOAL) is an adolescent onset mitochondrial myopathy. It has been reported that mutations in FDX2 cause this disease. FDX2 encodes a ubiquitously expressed mitochondrial ferredoxin essential for early Fe-S cluster biogenesis.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C73  Mitochondrial myopathies
     H02771  Episodic mitochondrial myopathy with or without optic atrophy and reversible leukoencephalopathy

Gene

FDX2 [HSA:112812] [KO:K22071]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Gurgel-Giannetti J, Lynch DS, Paiva ARB, Lucato LT, Yamamoto G, Thomsen C, Basu S, Freua F, Giannetti AV, de Assis BDR, Ribeiro MDO, Barcelos I, Sayao Souza K, Monti F, Melo US, Amorim S, Silva LGL, Macedo-Souza LI, Vianna-Morgante AM, Hirano M, Van der Knaap MS, Lill R, Vainzof M, Oldfors A, Houlden H, Kok F

Title

A novel complex neurological phenotype due to a homozygous mutation in FDX2.

Journal

Brain 141:2289-2298 (2018)
DOI:10.1093/brain/awy172

Reference

Authors

Spiegel R, Saada A, Halvardson J, Soiferman D, Shaag A, Edvardson S, Horovitz Y, Khayat M, Shalev SA, Feuk L, Elpeleg O

Title

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.

Journal

Eur J Hum Genet 22:902-6 (2014)
DOI:10.1038/ejhg.2013.269

LinkDB

» Japanese version

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