TY  - GEN
AU  - Metodiev,Metodi D
AU  - Thompson,Kyle
AU  - Alston,Charlotte L
AU  - Morris,Andrew A M
AU  - He,Langping
AU  - Assouline,Zarah
AU  - Rio,Marlène
AU  - Bahi-Buisson,Nadia
AU  - Pyle,Angela
AU  - Griffin,Helen
AU  - Siira,Stefan
AU  - Filipovska,Aleksandra
AU  - Munnich,Arnold
AU  - Chinnery,Patrick F
AU  - McFarland,Robert
AU  - Rötig,Agnès
AU  - Taylor,Robert W
TI  - Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies
SN  - 1537-6605
PY  - 2017///0515
KW  - Amino Acid Sequence
KW  - Electron Transport
KW  - genetics
KW  - Female
KW  - Genes, Recessive
KW  - Humans
KW  - Infant, Newborn
KW  - Male
KW  - Methyltransferases
KW  - Mitochondria
KW  - metabolism
KW  - Mitochondrial Diseases
KW  - etiology
KW  - Mutation
KW  - Pedigree
KW  - Protein Biosynthesis
KW  - physiology
KW  - RNA
KW  - RNA Processing, Post-Transcriptional
KW  - RNA, Mitochondrial
KW  - RNA, Transfer
KW  - Ribonuclease P
KW  - Sequence Homology, Amino Acid
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.ajhg.2016.03.010
ER  -