20 years of human mtDNA pathologic point mutations: Carefully reading the pathogenicity criteria

Biochimica et Biophysica Acta - Bioenergetics

Volumn 1787, Issue 5, 2009, Pages 476-483

  Montoya, Julio ^a,b,c   López Gallardo, Ester ^a,b,c   Díez Sánchez, Carmen ^a,b   López Pérez, Manuel J ^a,b,c   Ruiz Pesini, Eduardo ^a,b,c,d  

^a UNIVERSITY OF ZARAGOZA   (Spain)

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

^c INSTITUTO ARAGONÉS DE CIENCIAS DE LA SALUD   (Spain)

^d FUNDACIÓN ARAID   (Spain)

Author keywords

Criteria for pathogenicity; Mitochondrial DNA disease; Point mutation

Indexed keywords

MITOCHONDRIAL DNA; BACTERIAL DNA;

CLINICAL FEATURE; CYBRID; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EMBRYO DEVELOPMENT; HUMAN; HUMAN CELL; MOLECULAR MODEL; PATHOGENICITY; PHENOTYPE; PHYLOGENY; POINT MUTATION; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN VARIANT; REVIEW; AMINO ACID SUBSTITUTION; CELL NUCLEUS; DIABETES MELLITUS; GENETIC VARIABILITY; GENETICS; HEARING IMPAIRMENT; MELAS SYNDROME; MERRF SYNDROME; MITOCHONDRION; PHYSIOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; SYMBIOSIS;

AMINO ACID SUBSTITUTION; CELL NUCLEUS; DEAFNESS; DIABETES MELLITUS; DNA, BACTERIAL; DNA, MITOCHONDRIAL; GENETIC VARIATION; HUMANS; MELAS SYNDROME; MERRF SYNDROME; MITOCHONDRIA; MITOCHONDRIAL DISEASES; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; SYMBIOSIS;

EID: 67349268943     PISSN: 00052728     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbabio.2008.09.003     Document Type: Review

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