SURF1-associated Leigh syndrome: a case series and novel mutations (Q83843481)

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28 January 2020

title

SURF1-associated Leigh syndrome: a case series and novel mutations (English)

1 reference

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28 January 2020

author name string

Inn-Chi Lee

1

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28 January 2020

Ayman W El-Hattab

2

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28 January 2020

Jing Wang

3

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28 January 2020

Fang-Yuan Li

4

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28 January 2020

Shao-Wen Weng

5

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28 January 2020

William J Craigen

6

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28 January 2020

Lee-Jun C Wong

7

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publication date

30 April 2012

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28 January 2020

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28 January 2020

volume

33

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issue

8

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page(s)

1192-1200

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Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

28 January 2020

cites work

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Early developmental pathology due to cytochrome c oxidase deficiency is revealed by a new zebrafish model

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A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency

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SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency.

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The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: Progress report

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Sequence analysis of the structural nuclear encoded subunits and assembly genes of cytochrome c oxidase in a cohort of 10 isolated complex IV-deficient patients revealed five mutations

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Genotypes and clinical phenotypes in children with cytochrome-c oxidase deficiency

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LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.

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Mitochondrial respiratory-chain diseases

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Transcriptional activators HAP/NF-Y rescue a cytochrome c oxidase defect in yeast and human cells

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Subacute necrotizing encephalomyelopathy in an infant

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Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

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SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency

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Three novel SURF-1 mutations in Japanese patients with Leigh syndrome

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Hypertrichosis in patients with SURF1 mutations

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7 January 2021

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency

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7 January 2021

Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome.

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7 January 2021

SURF1 missense mutations promote a mild Leigh phenotype.

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7 January 2021

High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients.

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7 January 2021

Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients

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7 January 2021

Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease

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7 January 2021

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

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A SURF1 gene mutation presenting as isolated leukodystrophy

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7 January 2021

Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome

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7 January 2021

A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency

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7 January 2021

Cytochrome c oxidase deficiency

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7 January 2021

Hypoxic and hypercapnic challenges unveil respiratory vulnerability of Surf1 knockout mice, an animal model of Leigh syndrome

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7 January 2021

Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2

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7 January 2021

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

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7 January 2021

Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.

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7 January 2021

Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency

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7 January 2021

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7 January 2021

Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochromec oxidase deficiency

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7 January 2021

Maternal Segmental Disomy in Leigh Syndrome with Cytochrome c Oxidase Deficiency Caused by Homozygous SURF1 Mutation

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7 January 2021

Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency

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7 January 2021

Mutations in SURF1 are not specifically associated with Leigh syndrome

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7 January 2021

A Novel Mutation in SURF1 Causes Skipping of Exon 8 in a Patient with Cytochrome c Oxidase-Deficient Leigh Syndrome and Hypertrichosis

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7 January 2021

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.

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7 January 2021

Heterogeneity of magnetic resonance imaging in Leigh syndrome with SURF1 gene 604G-->C mutation

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7 January 2021

Facial Dysmorphism in Leigh Syndrome With SURF-1 Mutation and COX Deficiency

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7 January 2021

Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency

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7 January 2021

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

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7 January 2021

Deficiency in complex IV (cytochrome c oxidase) of the respiratory chain, presenting as a leukodystrophy in two siblings with Leigh syndrome

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7 January 2021

Identifiers

DOI

10.1002/HUMU.22095

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22488715%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

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