Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNALeu(CUN) gene

Journal of the Neurological Sciences

Volumn 290, Issue 1-2, 2010, Pages 166-168

  Çoku, Jorida ^a   Shanske, Sara ^a   Mehrazin, Mahsa ^a   Tanji, Kurenai ^a   Naini, Ali ^a   Emmanuele, Valentina ^a   Patterson, Marc ^b   Hirano, Michio ^a   DiMauro, Salvatore ^a  

^a New York Presbyterian Morgan Stanley Children's Hospital   (United States)

^b MAYO CLINIC   (United States)

Author keywords

Ataxia; Dementia; Hearing loss; Mitochondrial DNA; tRNALeu(UCN)

Indexed keywords

LEUCINE TRANSFER RNA; MITOCHONDRIAL DNA;

ADULT; ANAMNESIS; ARTICLE; BRAIN DISEASE; CASE REPORT; CEREBELLAR ATAXIA; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL FEATURE; COGNITIVE DEFECT; DNA SEQUENCE; FEMALE; GENE MUTATION; HEARING LOSS; HUMAN; MITOCHONDRIAL ENCEPHALOMYOPATHY; MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ADULT; AGE OF ONSET; ATAXIA; BRAIN; BRAIN DAMAGE, CHRONIC; COGNITION DISORDERS; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; GENOTYPE; HEARING LOSS; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HUMANS; INHERITANCE PATTERNS; MITOCHONDRIAL DISEASES; MUTATION; RNA, TRANSFER, LEU;

EID: 74849102571     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2009.12.001     Document Type: Article

References (12)

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