Atypical MELAS associated with mitochondrial tRNA(Lys) gene A8296G mutation (Q48418646)

11 February 2018

title

Atypical MELAS associated with mitochondrial tRNA(Lys) gene A8296G mutation (English)

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11 February 2018

author name string

Ryoichi Sakuta

1

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11 February 2018

Shiho Honzawa

2

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11 February 2018

Nobuyuki Murakami

3

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11 February 2018

Yuichi Goto

4

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11 February 2018

Toshiro Nagai

5

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11 February 2018

publication date

1 November 2002

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11 February 2018

published in

Pediatric Neurology

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11 February 2018

volume

27

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11 February 2018

issue

5

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11 February 2018

page(s)

397-400

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11 February 2018

Clinical features of melas and mitochondrial DNA mutations

cites work

1 reference

https://api.crossref.org/works/10.1016/S0887-8994(02)00456-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0887-8994(02)00456-3

7 January 2021

A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).

1 reference

https://api.crossref.org/works/10.1016/S0887-8994(02)00456-3

7 January 2021

A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)

1 reference

https://api.crossref.org/works/10.1016/S0887-8994(02)00456-3

7 January 2021

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

1 reference

https://api.crossref.org/works/10.1016/S0887-8994(02)00456-3

7 January 2021

Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families

1 reference

https://api.crossref.org/works/10.1016/S0887-8994(02)00456-3

7 January 2021

Bilateral Striatal Necrosis and MELAS Associated with a New T3308C Mutation in the Mitochondrial ND1 Gene

1 reference

https://api.crossref.org/works/10.1016/S0887-8994(02)00456-3

7 January 2021

Pigmentary retinopathy associated with the mitochondrial DNA 3243 point mutation

1 reference

https://api.crossref.org/works/10.1016/S0887-8994(02)00456-3

7 January 2021

Optic neuropathy associated with mitochondrial tRNALeu(uur)A3243G mutation

1 reference

https://api.crossref.org/works/10.1016/S0887-8994(02)00456-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0887-8994(02)00456-3

7 January 2021

Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene

1 reference

https://api.crossref.org/works/10.1016/S0887-8994(02)00456-3

7 January 2021

Novel Mitochondrial DNA Mutation in tRNALys(8296A → G) Associated with Diabetes

1 reference

https://api.crossref.org/works/10.1016/S0887-8994(02)00456-3

7 January 2021

A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers

1 reference

https://api.crossref.org/works/10.1016/S0887-8994(02)00456-3

7 January 2021

10.1016/S0887-8994(02)00456-3

Identifiers

DOI

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11 February 2018

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11 February 2018