Studies on pathogenetic and molecular phenotype characterization due to DNA mutations;Estudios de patogenicidad y caracterizacion del fenotipo molecular provocado por mutaciones en el ADN mitocondrial humano

Revista de Neurologia

Volumn 26, Issue SUPPL. 1, 1998, Pages

  Garessc, R ^a  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

Cybrids; Mitochondrial DNA; Pathogenic mutations; Single fiber PCR

Indexed keywords

DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; MITOCHONDRIAL MYOPATHY; PATHOGENESIS; POLYMERASE CHAIN REACTION; REVIEW; BONE TUMOR; FIBROBLAST; GENETICS; MERRF SYNDROME; OSTEOSARCOMA; PATHOLOGY; PHENOTYPE; POINT MUTATION;

MITOCHONDRIAL DNA;

BONE NEOPLASMS; DNA, MITOCHONDRIAL; FIBROBLASTS; HUMANS; MERRF SYNDROME; OSTEOSARCOMA; PHENOTYPE; POINT MUTATION;

EID: 0031679826     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (4)

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2. Lightowlers RN, Chinnery PF, Tumbull DM, Howell N. Mammalian mitochondrial genetics: Heredity, heteroplasmy and disease. Trends Genet 1997; 13: 450-5.
3. Jenuth JP, Peterson, AC, Fu K, Shoubridge EA. Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA. Nat Genet 1996; 14: 146-51.
4. Poulton J. Transmission of mtDNA: Cracks in the bottleneck. Am J Hum Genet 1995; 57: 224-6.