(Q38181713)

30 August 2017

title

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening (English)

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30 August 2017

4

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25

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30 August 2017

Holger Prokisch

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Richard J Rodenburg

object named as

Richard J Rodenburg

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Ilka Wittig

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object named as

Ilka Wittig

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30 August 2017

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Yasin Memari

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1

Tobias B Haack

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Katharina Danhauser

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Thomas Wieland

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Tim M Strom

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Matteo Gorza

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Peter Freisinger

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Wolfgang Sperl

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8

Valentina Strecker

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12

Robert Kopajtich

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Gudrun Schottmann

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Markus Schuelke

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5

Birgit Haberberger

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11

Uwe Ahting

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Ekkehard Wilichowski

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Barbara Plecko

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15

Urania Kotzaeridou

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13

Saskia B Wortmann

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Laura Kremer

7

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Elisabeth Graf

9

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Georg F Hoffmann

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Ulrich Stephani

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30 August 2017

language of work or name

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25 December 2013

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Molecular Genetics and Metabolism

30 August 2017

published in

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30 August 2017

volume

111

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30 August 2017

issue

3

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30 August 2017

page(s)

342-352

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Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

30 August 2017

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An enhanced MITOMAP with a global mtDNA mutational phylogeny

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Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

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Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy

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Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation

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Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation

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Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis

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Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).

7 January 2021

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Acute infantile liver failure due to mutations in the TRMU gene.

7 January 2021

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Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

7 January 2021

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Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

7 January 2021

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Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations

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Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

7 January 2021

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Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

7 January 2021

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Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans

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Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

7 January 2021

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Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome

7 January 2021

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Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome

7 January 2021

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Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

7 January 2021

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Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu

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Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs

7 January 2021

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ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

7 January 2021

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Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect

7 January 2021

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Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

7 January 2021

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Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT

7 January 2021

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MitoP2: an integrative tool for the analysis of the mitochondrial proteome

7 January 2021

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A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

7 January 2021

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Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

7 January 2021

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Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings

7 January 2021

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Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

7 January 2021

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7 January 2021

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Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units

7 January 2021

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7 January 2021

Identifiers

DOI

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30 August 2017

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