Pediatric-onset dystonia associated with bilateral striatal necrosis and G14459A mutation in a Korean family: a case report (Q33565423)

28 July 2017

0 references

Pediatric-onset dystonia associated with bilateral striatal necrosis and G14459A mutation in a Korean family: a case report (English)

1 reference

28 July 2017

1 reference

Chang-Seok Ki

2

0 references

author name string

In-Suk Kim

series ordinal

1

1 reference

28 July 2017

Ki-Jong Park

series ordinal

3

1 reference

28 July 2017

language of work or name

1 reference

26 December 2009

1 reference

Journal of Korean Medical Science

28 July 2017

published in

1 reference

28 July 2017

volume

25

1 reference

28 July 2017

issue

1

1 reference

28 July 2017

page(s)

180-184

1 reference

Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800009

Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800009

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800009

Leber's hereditary optic neuropathy with dystonia in a Japanese family

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800009

Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800009

Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800009

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

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800009

Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800009

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

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800009

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

31 October 2018

1 reference

12 December 2020

Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation

1 reference

12 December 2020

Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation

1 reference

12 December 2020

Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene

1 reference

12 December 2020

10.3346/JKMS.2010.25.1.180

Identifiers

DOI

1 reference

28 July 2017

1 reference

28 July 2017

1 reference