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Multiple mitochondrial dysfunctions syndrome 2
- ... Multiple mitochondrial dysfunctions syndrome 1 Genetic Testing Registry: Multiple mitochondrial dysfunctions syndrome 2 Genetic Testing Registry: Multiple mitochondrial dysfunctions syndrome 3 ...
- ... Prokisch H. Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings. J Inherit Metab Dis. 2013 Jan;36( ...
- ... a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes. Am ... dysfunction syndrome and NFU1 mutations. Front Genet. 2014 Nov 20; ...
- ... in the RRM2B gene can cause RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (RRM2B-MDS), a severe condition that affects multiple body systems. It typically leads to brain dysfunction combined with muscle weakness (encephalomyopathy) and a problem ...
- ... that begin by early childhood. Individuals with Behr syndrome develop optic ... due to poor mitochondrial function. It is unclear why OPA1 gene mutations ...
- ... Van Broeckhoven C. Progressive external ophthalmoplegia characterized by multiple deletions of ... Citation on PubMed
- ... Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet. 2012 Jun 10;44(7):797-802. doi: 10.1038/ng.2325. Citation on PubMed
- ... fumarase deficiency. Mol Genet Metab. 2006 Jun;88(2):146-52. doi: 10.1016/j.ymgme.2006.01.007. Epub 2006 Feb 28. Citation on PubMed King A, Selak MA, Gottlieb E. Succinate dehydrogenase and fumarate hydratase: linking mitochondrial dysfunction and cancer. Oncogene. 2006 Aug 7;25(34): ...
- ... oxidase deficiency are involved in energy production in mitochondria through a ... of multiple protein parts (subunits). Many other proteins are involved ...
- ... symptoms. These mutations can occur in at least two mitochondrial genes: MT-RNR1 and MT-TS1.The MT- ... PubMed Fischel-Ghodsian N, Kopke RD, Ge X. Mitochondrial dysfunction in hearing loss. Mitochondrion. 2004 Sep;4(5- ...