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