Variable phenotypes in a family with mitochondrial encephalomyopathy harboring a 3291T > C mutation in mitochondrial DNA

Neurological Sciences

Volumn 32, Issue 5, 2011, Pages 861-864

  Sunami, Yoko ^a   Sugaya, Keizo ^a   Chihara, Norio ^b   Goto, Yu Ichi ^c   Matsubara, Shiro ^a  

^a TOKYO METROPOLITAN NEUROLOGICAL HOSPITAL   (Japan)

^b National Center Hospital of Neurology and Psychiatry   (Japan)

^c NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

3291T > C; Family case; Mitochondrial encephalomyopathy; mtDNA mutation

Indexed keywords

MITOCHONDRIAL DNA; TRANSFER RNA;

ADOLESCENT; ADULT; AGED; ARTICLE; CEREBELLAR ATAXIA; CLINICAL ARTICLE; EPILEPSY; EXTRACHROMOSOMAL INHERITANCE; FAMILY; FEMALE; GENE; GENE MUTATION; GENETIC VARIABILITY; HEADACHE; HUMAN; HUMAN TISSUE; JAPANESE; MITOCHONDRIAL ENCEPHALOMYOPATHY; MTDNA GENE; MUSCLE BIOPSY; MYOCLONUS; MYOPATHY; PHENOTYPE; POINT MUTATION; RECURRENT DISEASE; TRNA GENE;

ADOLESCENT; ADULT; BRAIN; DNA, MITOCHONDRIAL; FEMALE; HUMANS; MALE; MITOCHONDRIA; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUSCLE, SKELETAL; PEDIGREE; PHENOTYPE; POINT MUTATION;

EID: 84860413554     PISSN: 15901874     EISSN: 15903478     Source Type: Journal    
DOI: 10.1007/s10072-011-0719-9     Document Type: Article

References (8)

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