(Q48194241)

9 February 2018

title

Infantile encephalopathy associated with the MELAS A3243G mutation (English)

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9 February 2018

author name string

Sue CM

1

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9 February 2018

Bruno C

2

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9 February 2018

Andreu AL

3

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9 February 2018

Cargan A

4

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9 February 2018

Mendell JR

5

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9 February 2018

Tsao CY

6

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9 February 2018

Luquette M

7

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9 February 2018

Paolicchi J

8

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9 February 2018

Shanske S

9

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9 February 2018

DiMauro S

10

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9 February 2018

De Vivo DC

11

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9 February 2018

language of work or name

English

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publication date

1 June 1999

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9 February 2018

The Journal of Pediatrics

published in

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9 February 2018

volume

134

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9 February 2018

issue

6

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9 February 2018

page(s)

696-700

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9 February 2018

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

cites work

1 reference

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

7 January 2021

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The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without stroke.

7 January 2021

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Mitochondrial encephalomyopathy: variable clinical expression within a single kindred

7 January 2021

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Clinical features of melas and mitochondrial DNA mutations

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970283-0

Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970283-0

Cochlear origin of hearing loss in MELAS syndrome

7 January 2021

1 reference

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Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

7 January 2021

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Adult-onset diabetes mellitus and neurosensory hearing loss in maternal relatives of MELAS patients in a family with the tRNA(Leu(UUR)) mutation.

7 January 2021

1 reference

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Diabetes mellitus is one of the heterogeneous phenotypic features of a mitochondrial DNA point mutation within the tRNALeu(UUR) gene

7 January 2021

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970283-0

Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA

7 January 2021

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

7 January 2021

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Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts

7 January 2021

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Subacute necrotizing encephalomyelopathy in an infant

7 January 2021

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

7 January 2021

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Heterogeneous presentation in Leigh syndrome

7 January 2021

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The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.

7 January 2021

1 reference

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Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome.

7 January 2021

1 reference

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Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes.

7 January 2021

1 reference

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10.1016/S0022-3476(99)70283-0

7 January 2021

Identifiers

DOI

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9 February 2018

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9 February 2018