Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy

Hum Mutat. 1996;7(2):158-63. doi: 10.1002/(SICI)1098-1004(1996)7:2<158::AID-HUMU12>3.0.CO;2-1.

Authors

G Manfredi¹, E A Schon, E Bonilla, C T Moraes, S Shanske, S DiMauro

Affiliation

¹ H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Disorders, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA.

PMID: 8829635
DOI: 10.1002/(SICI)1098-1004(1996)7:2<158::AID-HUMU12>3.0.CO;2-1

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

MeSH terms

Base Sequence
Child, Preschool
DNA, Mitochondrial / genetics*
Electron Transport Complex IV / metabolism
Evolution, Molecular
Female
Humans
Mitochondria, Muscle / ultrastructure
Mitochondrial Encephalomyopathies / enzymology
Mitochondrial Encephalomyopathies / genetics*
Mitochondrial Encephalomyopathies / pathology
Molecular Sequence Data
Muscle Fibers, Skeletal / enzymology
Muscle Fibers, Skeletal / pathology
Mutation*
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Polymorphism, Single-Stranded Conformational
RNA, Transfer, Cys / chemistry
RNA, Transfer, Cys / genetics*
Succinate Dehydrogenase / metabolism

Substances

DNA, Mitochondrial
RNA, Transfer, Cys
Succinate Dehydrogenase
Electron Transport Complex IV