Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNACys gene

Neuromuscular Disorders

Volumn 17, Issue 3, 2007, Pages 258-261

  Scuderi, Carmela ^a   Borgione, Eugenia ^a   Musumeci, Sebastiano ^a   Elia, Maurizio ^a   Castello, Filippa ^a   Fichera, Marco ^a   Davidzon, Guido ^b   DiMauro, Salvatore ^b  

^a OASI RESEARCH INSTITUTE IRCCS   (Italy)

^b NewYork Presbyterian Hospital   (United States)

Author keywords

Homoplasmic mutation; Mitochondrial DNA; Nuclear factors; tRNACys

Indexed keywords

CYSTEINE; GENOMIC DNA; LAMOTRIGINE; MITOCHONDRIAL DNA; TRANSFER RNA; VALPROIC ACID;

ADULT; ARTICLE; BRAIN ATROPHY; CASE REPORT; DISEASE SEVERITY; DRUG SUBSTITUTION; ELECTROENCEPHALOGRAM; ENCEPHALOMYOPATHY; FEMALE; HUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE ANALYSIS; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEIZURE;

ADULT; FAMILY HEALTH; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MITOCHONDRIA; MITOCHONDRIAL ENCEPHALOMYOPATHIES; POINT MUTATION; RNA, TRANSFER, CYS;

EID: 33947169603     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2006.11.006     Document Type: Article

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