A case of mitochondrial encephalomyopathy showing ophthalmoplegia, diabetes mellitus and hearing loss associated with the A3243G mutation of mitochondrial DNA

Clinical Neurology

Volumn 37, Issue 4, 1997, Pages 326-330

  Hoshino, Sachiko ^a   Tamaoka, Akira ^a   Ohkoshi, Norio ^a   Shoji, Shin Ichi ^a   Goto, Yu Ichi ^b  

^a UNIVERSITY OF TSUKUBA   (Japan)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

3243 mutation; Chronic progressive external ophthal moplegia (GPEO); Cytochrome c oxidase (COX); Mitochondrial encephalomyopathy; Phenotype

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; BRAIN DISEASE; DIABETES MELLITUS; HEARING LOSS; HUMAN; MUTATION; OPHTHALMOPLEGIA; PHENOTYPE; RETINOPATHY; SPINAL CORD DISEASE;

DIABETES MELLITUS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX IV; FEMALE; HEARING LOSS, BILATERAL; HUMANS; MIDDLE AGED; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUSCLE, SKELETAL; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; POINT MUTATION;

EID: 0030874124     PISSN: 0009918X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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