A novel mutation in the mitochondrial tRNAPro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency

European Journal of Human Genetics

Volumn 17, Issue 8, 2009, Pages 1092-1096

  Da Pozzo, Paola ^a   Cardaioli, Elena ^a   Malfatti, Edoardo ^a   Gallus, Gian Nicola ^a   Malandrini, Alessandro ^a   Gaudiano, Carmen ^a   Berti, Gianna ^a   Invernizzi, Federica ^b   Zeviani, Massimo ^b   Federico, Antonio ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; MITOCHONDRIAL DNA; MITOCHONDRIAL RNA; MUSCLE ENZYME; PROLINE TRANSFER RNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINYL COENZYME A;

ADULT; ARTICLE; ATAXIA; CASE REPORT; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; GENETIC ASSOCIATION; HEARING IMPAIRMENT; HUMAN; LEUKOENCEPHALOPATHY; MITOCHONDRIAL DNA DISORDER; MITOCHONDRIAL GENE; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; PRIORITY JOURNAL; RESPIRATORY CHAIN; RETINITIS PIGMENTOSA;

AGE OF ONSET; ATAXIA; BASE SEQUENCE; BRAIN DISEASES; DEAFNESS; ELECTRON TRANSPORT COMPLEX I; FEMALE; GENES, MITOCHONDRIAL; HEARING LOSS, SENSORINEURAL; HUMANS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NUCLEIC ACID CONFORMATION; NYSTAGMUS, CONGENITAL; PEDIGREE; RETINITIS PIGMENTOSA; RNA, TRANSFER, PRO;

EID: 67749106029     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.12     Document Type: Article

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