A novel mitochondrial tRNAPhe mutation causes MERRF syndrome

Neurology

Volumn 62, Issue 11, 2004, Pages 2119-2121

  Mancuso, M ^a   Filosto, M ^a   Mootha, V K ^b   Rocchi, A ^c   Pistolesi, S ^c   Murri, L ^c   DiMauro, Salvatore ^a   Siciliano, G ^c  

^a New York Presbyterian Columbia University Medical Center   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c UNIVERSITY OF PISA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYTOCHROME C OXIDASE; GENE PRODUCT; GUANINE; LYSINE; MITOCHONDRIAL DNA; MITOCHONDRIAL RNA; PHENYLALANINE; SUCCINATE DEHYDROGENASE; TRANSFER RNA; PHENYLALANINE TRANSFER RNA;

ADULT; ARTICLE; CASE REPORT; COGNITION; ELECTROMYOGRAM; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MERRF SYNDROME; MUSCLE BIOPSY; MYOCLONUS EPILEPSY; NERVE CONDUCTION; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKELETAL MUSCLE; ADOLESCENT; AMINO ACID SUBSTITUTION; ANTIBODY SPECIFICITY; CHEMISTRY; COMPARATIVE STUDY; GENETIC HETEROGENEITY; GENETICS; MISSENSE MUTATION; MITOCHONDRION; MUSCLE; PATHOLOGY; POINT MUTATION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; ULTRASTRUCTURE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX IV; GENETIC HETEROGENEITY; HUMANS; MERRF SYNDROME; MITOCHONDRIA; MUSCLES; MUTATION, MISSENSE; ORGAN SPECIFICITY; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RNA, TRANSFER, PHE;

EID: 2942596452     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000127608.48406.F1     Document Type: Article

References (9)

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