New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation.
Pulkes, T
New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation. [electronic resource] - Neuromuscular disorders : NMD May 2005 - 364-71 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0960-8966
10.1016/j.nmd.2005.01.006 doi
Adolescent
Adult
DNA Mutational Analysis--methods
DNA, Mitochondrial--genetics
Electron Transport Complex IV--metabolism
Electrophoresis--methods
Female
Humans
Male
Microscopy, Electron, Transmission--methods
Mitochondria, Muscle--pathology
Mitochondrial Encephalomyopathies--enzymology
Mitochondrial Proteins--metabolism
Muscle, Skeletal--enzymology
Mutation
Nucleic Acid Conformation
Phenotype
RNA, Transfer, Ser--chemistry
Serine--metabolism
New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation. [electronic resource] - Neuromuscular disorders : NMD May 2005 - 364-71 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0960-8966
10.1016/j.nmd.2005.01.006 doi
Adolescent
Adult
DNA Mutational Analysis--methods
DNA, Mitochondrial--genetics
Electron Transport Complex IV--metabolism
Electrophoresis--methods
Female
Humans
Male
Microscopy, Electron, Transmission--methods
Mitochondria, Muscle--pathology
Mitochondrial Encephalomyopathies--enzymology
Mitochondrial Proteins--metabolism
Muscle, Skeletal--enzymology
Mutation
Nucleic Acid Conformation
Phenotype
RNA, Transfer, Ser--chemistry
Serine--metabolism