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Results 1 - 10 of 22 for Recessive mitochondrial ataxia syndrome
  1. Ataxia neuropathy spectrum 
    ... neuropathy spectrum now includes the conditions previously called mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia ( ...
    https://medlineplus.gov/.../condition/ataxia-neuropathy-spectrum - Genetics
  2. TWNK gene 
    ... in nerve function (neuropathy). The conditions previously named mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia ( ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  3. Infantile-onset spinocerebellar ataxia 
    ... JN, Suomalainen A. Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and ...
    https://medlineplus.gov/.../infantile-onset-spinocerebellar-ataxia - Genetics
  4. POLG gene 
    ... in nerve function (neuropathy). The conditions previously named mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia ( ...
    https://medlineplus.gov/genetics/gene/polg - Genetics
  5. Dilated cardiomyopathy with ataxia syndrome 
    ... mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ... importation of mitochondrial protein. Cardiol Young. 2007 Apr;17(2):215- ...
    https://medlineplus.gov/...lated-cardiomyopathy-with-ataxia-syndrome - Genetics
  6. DNAJC19 gene 
    ... Bernier F. Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein. Cardiol Young. 2007 Apr;17(2):215- ...
    https://medlineplus.gov/genetics/gene/dnajc19 - Genetics
  7. Perrault syndrome 
    ... S, King MC, Friedman TB, Newman WG. Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet. ...
    https://medlineplus.gov/genetics/condition/perrault-syndrome - Genetics
  8. Primary coenzyme Q10 deficiency 
    ... CoQ deficiency Primary CoQ10 deficiency Ubiquinone deficiency ... Q10 DEFICIENCY, PRIMARY, 4; COQ10D4 NEPHROTIC SYNDROME, TYPE 9; NPHS9 COENZYME Q10 DEFICIENCY, PRIMARY, 8; ...
    https://medlineplus.gov/.../primary-coenzyme-q10-deficiency - Genetics
  9. Mitochondrial complex V deficiency 
    ... and symptoms that are classified as a specific syndrome. For example, mitochondrial complex V deficiency can cause a condition called neuropathy, ataxia, and retinitis pigmentosa (NARP). NARP causes a variety ...
    https://medlineplus.gov/.../mitochondrial-complex-v-deficiency - Genetics
  10. Deafness-dystonia-optic neuronopathy syndrome 
    ... abnormal protein transport affects the function of the mitochondria and causes the signs and symptoms of DDON syndrome. TIMM8A DDON syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is ...
    https://medlineplus.gov/...ness-dystonia-optic-neuronopathy-syndrome - Genetics
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