Mitochondrial tRNA(Cys) gene mutation (A5814G): A second family with mitochondrial encephalopathy

Neuromuscular Disorders

Volumn 7, Issue 3, 1997, Pages 156-159

  Santorelli, Filippo M ^a   Siciliano, Gabriele ^b   Casali, Carlo ^c   Basirico, Matthew G ^a   Carrozzo, Rosalba ^a   Calvosa, Fausta ^c   Sartucci, Ferdinando ^b   Bonfiglio, Luca ^b   Murri, Luigi ^b   DiMauro, Salvatore ^a,d  

^a Howard Hughes Medical Institute   (United States)

^b UNIVERSITY OF PISA   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d Department of Neurology and the Taub Institute for Research on Alzheimer's Disease and the Aging Brain   (United States)

Author keywords

Cysteine tRNA; Encephalomyopathy; mtDNA

Indexed keywords

MITOCHONDRIAL RNA; TRANSFER RNA;

ADULT; ARTICLE; BLOOD; BRAIN STEM; CASE REPORT; ENCEPHALOMYOPATHY; EXTERNAL OPHTHALMOPLEGIA; FEMALE; GENE MUTATION; HUMAN; ITALY; MUSCLE; NEUROPHYSIOLOGY; PATHOGENICITY; POINT MUTATION; PORTUGAL; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE;

ADULT; BLOTTING, SOUTHERN; FAMILY HEALTH; FEMALE; HUMANS; ITALY; MALE; MITOCHONDRIA; MITOCHONDRIAL ENCEPHALOMYOPATHIES; PEDIGREE; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RNA, TRANSFER, CYS;

EID: 0030920721     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(97)00444-6     Document Type: Article

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