The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

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 clinical, biochemical and molecular genetic inves...

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Bibliografiske detaljer
Udgivet i:J Med Genet
Main Authors: Ng, Yi Shiau, Alston, Charlotte L, Diodato, Daria, Morris, Andrew A, Ulrick, Nicole, Kmoch, Stanislav, Houštěk, Josef, Martinelli, Diego, Haghighi, Alireza, Atiq, Mehnaz, Gamero, Montserrat Anton, Garcia-Martinez, Elena, Kratochvílová, Hana, Santra, Saikat, Brown, Ruth M, Brown, Garry K, Ragge, Nicola, Monavari, Ahmad, Pysden, Karen, Ravn, Kirstine, Casey, Jillian P, Khan, Arif, Chakrapani, Anupam, Vassallo, Grace, Simons, Cas, McKeever, Karl, O'Sullivan, Siobhan, Childs, Anne-Marie, Østergaard, Elsebet, Vanderver, Adeline, Goldstein, Amy, Vogt, Julie, Taylor, Robert W, McFarland, Robert
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Publishing Group 2016
Fag:
Genotype-Phenotype Correlations
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5264221/
https://ncbi.nlm.nih.gov/pubmed/27412952
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2016-103910
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