(Q34544668)

2 August 2017

Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan (English)

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2 August 2017

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Akira Sudo

1

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2 August 2017

Shiho Honzawa

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2

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2 August 2017

Ikuya Nonaka

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3

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2 August 2017

Yu-ichi Goto

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4

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2 August 2017

17 January 2004

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Journal of Human Genetics

2 August 2017

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2 August 2017

49

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2 August 2017

2

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2 August 2017

92-96

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describes a project that uses

2 August 2017

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https://scigraph.springernature.com/pub.10.1007/s10038-003-0116-1

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cites work

Subacute necrotizing encephalomyelopathy in an infant

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12 December 2020

Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene

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12 December 2020

Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

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12 December 2020

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

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12 December 2020

Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.

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12 December 2020

A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis

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12 December 2020

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

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12 December 2020

Clinical spectrum of mitochondrial DNA mutation at base pair 8344

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12 December 2020

Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome.

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12 December 2020

Leigh disease associated with a novel mitochondrial DNA ND5 mutation

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12 December 2020

Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature

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12 December 2020

Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families

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12 December 2020

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

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12 December 2020

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

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12 December 2020

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

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12 December 2020

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high

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12 December 2020

Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene.

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12 December 2020

Subacute Necrotizing Encephalomyelopathy (Leigh's Disease): a Consideration of Clinical Features and Etiology

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12 December 2020

Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?

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12 December 2020

Leigh syndrome: serial MR imaging and clinical follow-up

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12 December 2020

Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA

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12 December 2020

The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS

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12 December 2020

Variability in the activity of respiratory chain enzymes in mitochondrial myopathies

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12 December 2020

A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome

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12 December 2020

Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.

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12 December 2020

Recurrent brain hematomas in MELAS associated with an ND5 gene mitochondrial mutation

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12 December 2020

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

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12 December 2020

Inter-mitochondrial complementation: Mitochondria-specific system preventing mice from expression of disease phenotypes by mutant mtDNA.

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12 December 2020

Tight control of respiration by NADH dehydrogenase ND5 subunit gene expression in mouse mitochondria

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12 December 2020

A novel mtDNA C11777A mutation in Leigh syndrome

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12 December 2020

Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications

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12 December 2020

The Wolff-Parkinson-White syndrome: the cellular substrate for conduction in the accessory atrioventricular pathway

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12 December 2020

A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients

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12 December 2020

A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.

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12 December 2020

10.1007/S10038-003-0116-1

Identifiers

DOI

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2 August 2017

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