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Results 1 - 9 of 9 for "3-Methylglutaconic" aciduria type 2
  1. Barth syndrome 
    ... to their sons. 3 methylglutaconic aciduria, type II 3-methylglutaconic aciduria type 2 BTHS Cardioskeletal myopathy with neutropenia and abnormal mitochondria ...
    https://medlineplus.gov/genetics/condition/barth-syndrome - Genetics
  2. TAFAZZIN gene 
    ... the TAFAZZIN gene have been found to cause Barth syndrome. This rare condition occurs almost exclusively in males ... and short stature. TAFAZZIN gene mutations that cause Barth syndrome result in the production of tafazzin proteins with ...
    https://medlineplus.gov/genetics/gene/tafazzin - Genetics
  3. Dilated cardiomyopathy with ataxia syndrome 
    ... chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J Med Genet. 2006 May;43( ...
    https://medlineplus.gov/...lated-cardiomyopathy-with-ataxia-syndrome - Genetics
  4. DNAJC19 gene 
    ... chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J Med Genet. 2006 May;43( ...
    https://medlineplus.gov/genetics/gene/dnajc19 - Genetics
  5. Costeff syndrome 
    ... B, Gahl WA, Anikster Y. OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. Mol Genet Metab. 2010 Jun;100(2):149-54. doi: 10.1016/j.ymgme.2010. ...
    https://medlineplus.gov/genetics/condition/costeff-syndrome - Genetics
  6. OPA3 gene 
    ... B, Gahl WA, Anikster Y. OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. Mol Genet Metab. 2010 Jun;100(2):149-54. doi: 10.1016/j.ymgme.2010. ...
    https://medlineplus.gov/genetics/gene/opa3 - Genetics
  7. MEGDEL syndrome 
    ... cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with ... Mol Genet Metab. 2013 Sep-Oct;110(1-2):73-7. doi: 10.1016/j.ymgme.2013. ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  8. SERAC1 gene 
    ... cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with ... Mol Genet Metab. 2013 Sep-Oct;110(1-2):73-7. doi: 10.1016/j.ymgme.2013. ...
    https://medlineplus.gov/genetics/gene/serac1 - Genetics
  9. CLPB deficiency 
    ... Organization for Rare Disorders (NORD) ... protein disaggregation. J Inherit Metab Dis. 2015 Mar;38(2):211-9. doi: 10.1007/s10545-015-9813- ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics