Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 12 for Mitochondrial disease with epilepsy
  1. Myoclonic epilepsy with ragged-red fibers 
    ... disorder results from a new mutation in a mitochondrial gene and occurs in people with no family history of MERRF. Fukuhara disease MERRF MERRF syndrome Myoclonic epilepsy associated with ragged-red fibers Myoencephalopathy ragged-red ...
    https://medlineplus.gov/...myoclonic-epilepsy-with-ragged-red-fibers - Genetics
  2. POLG gene 
    ... This Health Condition MedlinePlus Genetics provides information ... called myoclonic epilepsy myopathy sensory ataxia (MEMSA), which is characterized by ...
    https://medlineplus.gov/genetics/gene/polg - Genetics
  3. Myoclonic epilepsy myopathy sensory ataxia 
    ... 16. Citation on PubMed Stumpf JD, Copeland WC. Mitochondrial DNA replication and disease: insights from DNA polymerase gamma mutations. Cell Mol Life Sci. 2011 Jan;68(2):219-33. doi: 10.1007/s00018-010-0530-4. Epub 2010 Oct 8. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/...yoclonic-epilepsy-myopathy-sensory-ataxia - Genetics
  4. Mitochondrial DNA 
    ... on PubMed McKenzie M, Liolitsa D, Hanna MG. Mitochondrial disease: mutations and mechanisms. Neurochem Res. 2004 Mar;29( ... Fratta GM, Ciceri E, Carrara F, Zeviani M. Mitochondrial disease associated with the T8993G mutation of the mitochondrial ...
    https://medlineplus.gov/genetics/chromosome/mitochondrial-dna - Genetics
  5. MT-TH gene 
    ... with cardiomyopathy, but without other common signs of mitochondrial disease such as neurological abnormalities. This mutation replaces the ... mutations affirm their importance as a cause of mitochondrial disease. Hum Mutat. 2013 Sep;34(9):1260-8. ...
    https://medlineplus.gov/genetics/gene/mt-th - Genetics
  6. Mitochondrial complex I deficiency 
    ... degeneration. These syndromes can also have other causes. Mitochondrial diseases are thought to occur in about 1 in ... I deficiency is the most common cause of mitochondrial disease in children, accounting for approximately 30 percent of ...
    https://medlineplus.gov/.../mitochondrial-complex-i-deficiency - Genetics
  7. HSD10 disease 
    ... II deficiency MHBD deficiency Genetic Testing Registry: HSD10 mitochondrial disease HSD10 disease National Organization for Rare Disorders (NORD) HSD10 MITOCHONDRIAL DISEASE; HSD10MD PubMed Chatfield KC, Coughlin CR 2nd, Friederich ...
    https://medlineplus.gov/genetics/condition/hsd10-disease - Genetics
  8. Alpers-Huttenlocher syndrome 
    ... variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet. 1991 Mar;48(3): ... DNA level on cellular energy metabolism: implications for mitochondrial diseases. J Bioenerg Biomembr. 2008 Apr;40(2):59- ...
    https://medlineplus.gov/.../condition/alpers-huttenlocher-syndrome - Genetics
  9. MT-TL1 gene 
    ... tRNAs and the clinical features of a human mitochondrial disease. Proc Natl Acad Sci U S A. 2005 ... UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease. J Neurol Sci. 2013 Feb 15;325(1- ...
    https://medlineplus.gov/genetics/gene/mt-tl1 - Genetics
  10. GM3 synthase deficiency 
    GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first ... signs and symptoms of the condition. Amish infantile epilepsy syndrome Epilepsy syndrome, infantile-onset symptomatic Ganglioside GM3 ...
    https://medlineplus.gov/genetics/condition/gm3-synthase-deficiency - Genetics
previous · 1 · 2 · next