TY  - JOUR
AU  - Ng, Yi Shiau
AU  - Alston, Charlotte L.
AU  - Diodato, Daria
AU  - Morris, Andrew A.
AU  - Ulrick, Nicole
AU  - Kmoch, Stanislav
AU  - Houstek, Josef
AU  - Martinelli, Diego
AU  - Haghighi, Alireza
AU  - Atiq, Mehnaz
AU  - Gamero, Montserrat Anton
AU  - Garcia-Martinez, Elena
AU  - Kratochvilova, Hana
AU  - Santra, Saikat
AU  - Brown, Ruth M.
AU  - Brown, Garry K.
AU  - Ragge, Nicola
AU  - Monavari, Ahmad
AU  - Pysden, Karen
AU  - Ravn, Kirstine
AU  - Casey, Jillian P.
AU  - Khan, Arif
AU  - Chakrapani, Anupam
AU  - Vassallo, Grace
AU  - Simons, Cas
AU  - McKeever, Karl
AU  - O'Sullivan, Siobhan
AU  - Childs, Anne-Marie
AU  - Ostergaard, Elsebet
AU  - Vanderver, Adeline
AU  - Goldstein, Amy
AU  - Vogt, Julie
AU  - Taylor, Robert W.
AU  - McFarland, Robert
PY  - 2016
DO  - 10.1136/jmedgenet-2016-103910
SN  - 0022-2593
UR  - http://hdl.handle.net/10668/19038
T2  - Journal of medical genetics
AB  - Background Mutations in the RMND1 (Required for Meiotic Nuclear Division protein 1) gene have recently been linked to infantile onset mitochondrial disease characterised by multiple mitochondrial respiratory chain defects.Methods We summarised the...
LA  - en
PB  - Bmj publishing group
KW  - Complex deficiencies
KW  - Rmnd1 mutation
KW  - Renal-failure
KW  - Encephaloneuromyopathy
KW  - Translation
KW  - Defect
TI  - The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
TY  - research article
VL  - 53
ER  -