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Results 1 - 6 of 6 for Multiple mitochondrial dysfunctions syndrome 3
  1. Multiple mitochondrial dysfunctions syndrome 
    ... Multiple mitochondrial dysfunctions syndrome 2 Genetic Testing Registry: Multiple mitochondrial dysfunctions syndrome 3 Multiple mitochondrial dysfunctions syndrome National Organization for Rare ...
    https://medlineplus.gov/...tiple-mitochondrial-dysfunctions-syndrome - Genetics
  2. MEGDEL syndrome 
    ... the neurological and hearing problems characteristic of MEGDEL syndrome. It is unclear how SERAC1 gene mutations lead to abnormal release of 3-methylglutaconic acid in the urine, although it is thought to be related to mitochondrial dysfunction. SERAC1 This condition is inherited in an autosomal ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  3. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 
    FBXL4-related encephalomyopathic ... encephalomyopathic mtDNA depletion syndrome have weak muscle tone (hypotonia) and ...
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
  4. Hereditary paraganglioma-pheochromocytoma 
    ... chain with loss of enzymatic activity and abnormal mitochondrial morphology. J Pathol. 2003 Nov;201(3):480-6. doi: 10.1002/path.1461. Citation on PubMed Else T, Greenberg S, Fishbein L. Hereditary Paraganglioma-Pheochromocytoma Syndromes. 2008 May 21 [updated 2023 Sep 21]. In: ...
    https://medlineplus.gov/...hereditary-paraganglioma-pheochromocytoma - Genetics
  5. GM3 synthase deficiency 
    ... GM3 synthase deficiency. Ophthalmic Genet. 2006 Sep;27(3):89-91. doi: ... and mitochondrial dysfunction due to GM3 synthase deficiency. Eur J Hum ...
    https://medlineplus.gov/genetics/condition/gm3-synthase-deficiency - Genetics
  6. Cytochrome c oxidase deficiency 
    ... immuno-diagnosis of cytochrome oxidase (COX) deficiency in mitochondrial disease. Mitochondrion. 2011 May;11(3):430-6. doi: 10.1016/j.mito.2010. ...
    https://medlineplus.gov/.../cytochrome-c-oxidase-deficiency - Genetics