A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions

Annals of Neurology

Volumn 51, Issue 5, 2002, Pages 645-648

  Komaki, Hirofumi ^a   Fukazawa, Toshiyuki ^b   Houzen, Hideki ^b   Yoshida, Kazuto ^c   Nonaka, Ikuya ^a   Goto, Yu Ichi ^a  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b Hokuyukai Hospital   (Japan)

^c ASAHIKAWA RED CROSS HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE NUCLEOTIDE TRANSLOCASE; ASPARTIC ACID; GLYCINE; ISOPROTEIN; MITOCHONDRIAL DNA; NUCLEOTIDE;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CONTROLLED STUDY; DNA SEQUENCE; EXTERNAL OPHTHALMOPLEGIA; FAMILY; FEMALE; GENE DELETION; GENE MUTATION; HEART MUSCLE; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; JAPAN; MISSENSE MUTATION; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKELETAL MUSCLE;

ADULT; AGED; AMINO ACID SEQUENCE; ASPARTIC ACID; DNA, MITOCHONDRIAL; FEMALE; GENE DELETION; GENES, DOMINANT; GLYCINE; HUMANS; MITOCHONDRIAL ADP, ATP TRANSLOCASES; MOLECULAR SEQUENCE DATA; MUTATION; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; PEDIGREE;

EID: 0036225534     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10172     Document Type: Article

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