TY  - GEN
AU  - Kishita,Yoshihito
AU  - Pajak,Aleksandra
AU  - Bolar,Nikhita Ajit
AU  - Marobbio,Carlo M T
AU  - Maffezzini,Camilla
AU  - Miniero,Daniela V
AU  - Monné,Magnus
AU  - Kohda,Masakazu
AU  - Stranneheim,Henrik
AU  - Murayama,Kei
AU  - Naess,Karin
AU  - Lesko,Nicole
AU  - Bruhn,Helene
AU  - Mourier,Arnaud
AU  - Wibom,Rolf
AU  - Nennesmo,Inger
AU  - Jespers,Ann
AU  - Govaert,Paul
AU  - Ohtake,Akira
AU  - Van Laer,Lut
AU  - Loeys,Bart L
AU  - Freyer,Christoph
AU  - Palmieri,Ferdinando
AU  - Wredenberg,Anna
AU  - Okazaki,Yasushi
AU  - Wedell,Anna
TI  - Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26
SN  - 1537-6605
PY  - 2016///0225
KW  - Amino Acid Sequence
KW  - Amino Acid Transport Systems
KW  - genetics
KW  - Calcium-Binding Proteins
KW  - Child, Preschool
KW  - DNA Methylation
KW  - Female
KW  - Humans
KW  - Male
KW  - Mitochondrial Diseases
KW  - Molecular Sequence Data
KW  - Muscle Weakness
KW  - Mutation
KW  - Pedigree
KW  - Prognosis
KW  - RNA Stability
KW  - S-Adenosylmethionine
KW  - metabolism
KW  - Sequence Homology, Amino Acid
KW  - Thioctic Acid
KW  - Ubiquinone
KW  - analogs & derivatives
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2015.09.013
ER  -