A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation

Annals of Neurology

Volumn 43, Issue 1, 1998, Pages 98-101

  Tiranti, Valeria ^a   D'Agruma, Leonardo ^b   Pareyson, Davide ^a   Mora, Marina ^a   Carrara, Franco ^a   Zelante, Leopoldo ^b   Gasparini, Paolo ^b   Zeviani, Massimo ^a,c,d  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b Casa Sollievo della Sofferenza I   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d Div of Biochemistry and Genetics   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; TRANSFER RNA;

ADULT; ANIMAL TISSUE; ARTICLE; ATAXIA; CASE REPORT; FAMILY STUDY; GENE MUTATION; HUMAN; MALE; MENTAL DETERIORATION; MYOPATHY; NEUROLOGIC DISEASE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEIZURE; SINGLE STRAND CONFORMATION POLYMORPHISM;

BASE SEQUENCE; CYTOCHROME-C OXIDASE DEFICIENCY; DNA, MITOCHONDRIAL; HEARING DISORDERS; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUSCLE FIBERS; MUSCULAR DISEASES; MUTATION; NERVOUS SYSTEM DISEASES; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA; RNA, TRANSFER, VAL; SYNDROME;

EID: 0031941149     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410430116     Document Type: Article

References (14)

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