TY  - GEN
AU  - Neeve,Vivienne C M
AU  - Pyle,Angela
AU  - Boczonadi,Veronika
AU  - Gomez-Duran,Aurora
AU  - Griffin,Helen
AU  - Santibanez-Koref,Mauro
AU  - Gaiser,Ulrike
AU  - Bauer,Peter
AU  - Tzschach,Andreas
AU  - Chinnery,Patrick F
AU  - Horvath,Rita
TI  - Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT
SN  - 1872-8278
PY  - 2014///0715
KW  - Base Sequence
KW  - Blotting, Northern
KW  - Child
KW  - Child, Preschool
KW  - DNA Primers
KW  - Electron Transport
KW  - genetics
KW  - Electrophoresis, Polyacrylamide Gel
KW  - Female
KW  - Genes, Recessive
KW  - Humans
KW  - Muscle, Skeletal
KW  - metabolism
KW  - Mutation
KW  - Siblings
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.mito.2013.03.002
ER  -