Multiple mitochondrial dysfunctions syndrome
Definition:
References:
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[1]. Anju Shukla, et al. Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. J Hum Genet. 2017 Jul;62(7):723-727. [Content Brief]
[2]. F-Nora Vögtle, et al. Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood. Am J Hum Genet. 2018 Apr 5;102(4):557-573. [Content Brief]
[3]. Federica Invernizzi, et al. Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations. Front Genet. 2014 Nov 20;5:412. [Content Brief]
[4]. Jessie M Cameron, et al. Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes. Am J Hum Genet. 2011 Oct 7;89(4):486-95. [Content Brief]
[5]. Nikhita Ajit Bolar, et al. Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy. Hum Mol Genet. 2013 Jul 1;22(13):2590-602. [Content Brief]
[6]. Zuhair N Al-Hassnan, et al. ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder. J Med Genet. 2015 Mar;52(3):186-94. [Content Brief]
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