Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.
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RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvementPeriventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?Spectrum of combined respiratory chain defects.Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case reportThe clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.The clinical maze of mitochondrial neurologyMitochondria: impaired mitochondrial translation in human diseaseExpanding the Phenotype of the Founder South Asian Mutation in the Nuclear Encoding Mitochondrial RMND1 Gene.Hearing impairment and renal failure associated with RMND1 mutations.New gene targets of PGC-1α and ERRα co-regulation in C2C12 myotubes.
P2860
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P2860
Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.
description
2012 nî lūn-bûn
@nan
2012 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Infantile encephaloneuromyopat ...... o a homozygous RMND1 mutation.
@ast
Infantile encephaloneuromyopat ...... o a homozygous RMND1 mutation.
@en
Infantile encephaloneuromyopat ...... o a homozygous RMND1 mutation.
@nl
type
label
Infantile encephaloneuromyopat ...... o a homozygous RMND1 mutation.
@ast
Infantile encephaloneuromyopat ...... o a homozygous RMND1 mutation.
@en
Infantile encephaloneuromyopat ...... o a homozygous RMND1 mutation.
@nl
altLabel
Infantile encephaloneuromyopat ...... to a homozygous RMND1 mutation
@en
prefLabel
Infantile encephaloneuromyopat ...... o a homozygous RMND1 mutation.
@ast
Infantile encephaloneuromyopat ...... o a homozygous RMND1 mutation.
@en
Infantile encephaloneuromyopat ...... o a homozygous RMND1 mutation.
@nl
P2093
P2860
P50
P3181
P1476
Infantile encephaloneuromyopat ...... o a homozygous RMND1 mutation.
@en
P2093
Beatriz Garcia-Diaz
Catarina M Quinzii
Claudia C Ferreiro-Barros
Darryl C De Vivo
Hasan O Akman
Michio Hirano
Nader El Gharaby
Saba Tadesse
Simone Sanna-Cherchi
P2860
P304
P3181
P356
10.1016/J.AJHG.2012.08.019
P407
P577
2012-10-05T00:00:00Z