Neeve, Vivienne C M

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT. [electronic resource] - Mitochondrion Nov 2013 - 743-8 p. digital

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

1872-8278

10.1016/j.mito.2013.03.002 doi


Base Sequence
Blotting, Northern
Child
Child, Preschool
DNA Primers
Electron Transport--genetics
Electrophoresis, Polyacrylamide Gel
Female
Genes, Recessive
Humans
Muscle, Skeletal--metabolism
Mutation
Siblings