A novel mutation in the mitochondrial tRNAAla gene (m.5636T>C) in a patient with progressive external ophthalmoplegia

Mitochondrion

Volumn 11, Issue 1, 2011, Pages 228-233

  Pinós, Tomàs ^a,d   Marotta, Mario ^a   Gallardo, Eduard ^b,c   Illa, Isabel ^b,c   Díaz Manera, Jorge ^b,c   Gonzalez Vioque, Emiliano ^a,d   García Arumí, Elena ^a,d   Andreu, Antoni L ^a,d   Martí, Ramon ^a,d  

^a HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^b HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

Laser capture microdissection; Mitochondria; Mt tRNAAla; PEO

Indexed keywords

ALANINE TRANSFER RNA; CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; MITOCHONDRIAL RNA; NUCLEOTIDE;

ADULT; ARTICLE; CASE REPORT; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; COMPUTER MODEL; DNA DETERMINATION; DNA EXTRACTION; GENE MUTATION; GENETIC CONSERVATION; HUMAN; HUMAN CELL; HUMAN TISSUE; LASER CAPTURE MICRODISSECTION; MALE; MAMMAL; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; OPHTHALMOPLEGIA; PREDICTION; PRIORITY JOURNAL; PROTEIN SECONDARY STRUCTURE; PROTEIN TERTIARY STRUCTURE; PTOSIS;

ADULT; BIOPSY; DNA, MITOCHONDRIAL; GENES, MITOCHONDRIAL; HUMANS; MALE; MICRODISSECTION; MITOCHONDRIA; MUSCLE, SKELETAL; MUTATION; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; RNA, TRANSFER, ALA;

MAMMALIA;

EID: 78650020936     PISSN: 15677249     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mito.2010.08.008     Document Type: Article

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