Valente, Lucia

Identification of novel mutations in five patients with mitochondrial encephalomyopathy. [electronic resource] - Biochimica et biophysica acta May 2009 - 491-501 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

0006-3002

10.1016/j.bbabio.2008.10.001 doi


Adult
Brain--pathology
Child
DNA--genetics
DNA Primers
DNA, Mitochondrial--genetics
Electron Transport Complex IV--genetics
Humans
Magnetic Resonance Imaging
Mitochondria, Muscle--genetics
Mitochondrial Encephalomyopathies--enzymology
Muscle, Skeletal--pathology
Mutation
NADH Dehydrogenase--genetics
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Succinate Dehydrogenase--genetics