(Q74631784)

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A novel heteroplasmic point mutation in the mitochondrial tRNA(Lys) gene in a sporadic case of mitochondrial encephalomyopathy: de novo mutation and no transmission to the offspring

scientific article published on 01 January 1999

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10090475%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

A novel heteroplasmic point mutation in the mitochondrial tRNA(Lys) gene in a sporadic case of mitochondrial encephalomyopathy: de novo mutation and no transmission to the offspring (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10090475%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

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mitochondrial encephalomyopathy

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author name string

Houshmand M

1

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10090475%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Lindberg C

2

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12 November 2019

Moslemi AR

3

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12 November 2019

Oldfors A

4

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12 November 2019

Holme E

5

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12 November 2019

publication date

1 January 1999

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12 November 2019

1 reference

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12 November 2019

13

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12 November 2019

3

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12 November 2019

203-209

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12 November 2019

Sequence and organization of the human mitochondrial genome

1 reference

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21 January 2018

Rapid segregation of heteroplasmic bovine mitochondria

1 reference

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21 January 2018

Bottlenecks and beyond: mitochondrial DNA segregation in health and disease

1 reference

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21 January 2018

Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA

1 reference

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21 January 2018

A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A3%3C203%3A%3AAID-HUMU4%3E3.0.CO%3B2-3

21 January 2018

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

1 reference

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21 January 2018

Inheritance and expression of mitochondrial DNA point mutations

1 reference

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21 January 2018

Fatal mitochondrial myopathy, lactic acidosis, and complex I deficiency associated with a heteroplasmic A --> G mutation at position 3251 in the mitochondrial tRNALeu(UUR) gne.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A3%3C203%3A%3AAID-HUMU4%3E3.0.CO%3B2-3

21 January 2018

Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome

1 reference

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21 January 2018

A mitochondrial tRNA anticodon swap associated with a muscle disease

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A3%3C203%3A%3AAID-HUMU4%3E3.0.CO%3B2-3

21 January 2018

Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?

1 reference

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21 January 2018

Screening for mitochondrial cytopathies: the sub-anaerobic threshold exercise test (SATET).

1 reference

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21 January 2018

Mitochondrial DNA deletions in inclusion body myositis

1 reference

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21 January 2018

Mitochondrial DNA deletions in muscle fibers in inclusion body myositis

1 reference

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21 January 2018

Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A3%3C203%3A%3AAID-HUMU4%3E3.0.CO%3B2-3

21 January 2018

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

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations

1 reference

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21 January 2018

De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A3%3C203%3A%3AAID-HUMU4%3E3.0.CO%3B2-3

21 January 2018

A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy

1 reference

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21 January 2018

Mitochondrial disorders

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A3%3C203%3A%3AAID-HUMU4%3E3.0.CO%3B2-3

21 January 2018

Identifiers

10.1002/(SICI)1098-1004(1999)13:3<203::AID-HUMU4>3.0.CO;2-3

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10090475%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

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