Mitochondrial DNA point mutation in the COI gene in a patient with McArdle's disease

Journal of the Neurological Sciences

Volumn 192, Issue 1-2, 2001, Pages 81-84

  Aguilera, Isabel ^a   García Lozano, José Raúl ^a   Muñoz, Alfredo ^b   Arenas, Joaquín ^c   Campos, Yolanda ^c   Chinchón, Isidoro ^a   Roldán, Antonio Núñez ^a   Bautista, Juan ^a  

^a HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^b HOSPITAL DE JEREZ   (Spain)

^c HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

Author keywords

CIO gene; Complex I deficiency; McArdle's disease; Mitochondria

Indexed keywords

CYTOCHROME C OXIDASE; GLYCOGEN PHOSPHORYLASE; MITOCHONDRIAL DNA; NUCLEOTIDE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ADULT; ARTICLE; BIOCHEMISTRY; CASE REPORT; CODON; ENZYME SUBUNIT; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GLYCOGEN STORAGE DISEASE TYPE 5; HETEROZYGOTE; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; MITOCHONDRIAL RESPIRATION; MOLECULAR GENETICS; MUSCLE BIOPSY; POINT MUTATION; PRIORITY JOURNAL; RESPIRATORY CHAIN;

CODON; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; ELECTRON TRANSPORT COMPLEX IV; ENERGY METABOLISM; EXONS; FEMALE; GLYCOGEN; GLYCOGEN PHOSPHORYLASE, MUSCLE FORM; GLYCOGEN STORAGE DISEASE TYPE V; HUMANS; MIDDLE AGED; MITOCHONDRIA, MUSCLE; MUSCLE FIBERS; MUSCLE, SKELETAL; NADH, NADPH OXIDOREDUCTASES; POINT MUTATION;

EID: 0035889718     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(01)00634-7     Document Type: Article

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