Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening (Q38181713)

30 August 2017

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

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4

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30 August 2017

Holger Prokisch

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Richard J Rodenburg

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Richard J Rodenburg

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Ilka Wittig

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Ilka Wittig

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Yasin Memari

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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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Valentina Strecker

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Robert Kopajtich

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Gudrun Schottmann

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Markus Schuelke

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Birgit Haberberger

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Uwe Ahting

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Ekkehard Wilichowski

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Barbara Plecko

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Urania Kotzaeridou

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Saskia B Wortmann

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Laura Kremer

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Elisabeth Graf

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30 August 2017

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

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Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

30 August 2017

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.12.010

An enhanced MITOMAP with a global mtDNA mutational phylogeny

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.12.010

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.12.010

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.12.010

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.12.010

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

7 January 2021

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

7 January 2021

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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.

7 January 2021

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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

7 January 2021

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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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.12.010

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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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.12.010

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.12.010

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

7 January 2021

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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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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.12.010

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

1 reference

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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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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.12.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.12.010

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.12.010

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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10.1016/J.YMGME.2013.12.010

7 January 2021

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30 August 2017

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