Identification of novel mutations in five patients with mitochondrial encephalomyopathy

Biochimica et Biophysica Acta - Bioenergetics

Volumn 1787, Issue 5, 2009, Pages 491-501

  Valente, Lucia ^a   Piga, Daniela ^a   Lamantea, Eleonora ^a   Carrara, Franco ^a   Uziel, Graziella ^a   Cudia, Paola ^a   Zani, Anna ^a   Farina, Laura ^a   Morandi, Lucia ^a   Mora, Marina ^a   Spinazzola, Antonella ^a   Zeviani, Massimo ^a   Tiranti, Valeria ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

Mitochondrial DNA; mtDNA mutation; mtDNA Sequence analysis; Respiratory chain complex deficiency

Indexed keywords

MITOCHONDRIAL DNA; PHENYLALANINE; TRANSFER RNA; TRYPTOPHAN;

ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; COI GENE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA SCREENING; DNA SEQUENCE; ENCEPHALOMYOPATHY; FEMALE; GENE; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; LEBER HEREDITARY OPTIC NEUROPATHY; MALE; MELAS SYNDROME; MERRF SYNDROME; MOLECULAR GENETICS; MUSCLE; NARP SYNDROME; ND GENE; NEWBORN; POINT MUTATION; PRIORITY JOURNAL; SCHOOL CHILD;

ADULT; BRAIN; CHILD; DNA; DNA PRIMERS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX IV; HUMANS; MAGNETIC RESONANCE IMAGING; MITOCHONDRIA, MUSCLE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUSCLE, SKELETAL; MUTATION; NADH DEHYDROGENASE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SUCCINATE DEHYDROGENASE;

EID: 67349197091     PISSN: 00052728     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbabio.2008.10.001     Document Type: Article

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