(Q44028130)

29 November 2017

Macular pattern retinal dystrophy, adult-onset diabetes, and deafness: a family study of A3243G mitochondrial heteroplasmy (English)

1 reference

29 November 2017

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T J Harrison

1

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29 November 2017

R G Boles

2

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29 November 2017

D R Johnson

3

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29 November 2017

C LeBlond

4

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29 November 2017

L J Wong

5

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29 November 2017

language of work or name

English

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publication date

1 August 1997

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American Journal of Ophthalmology

29 November 2017

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29 November 2017

124

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29 November 2017

217-221

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29 November 2017

2

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The retinal manifestations of mitochondrial myopathy. A study of 22 cases

29 November 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970787-1

Retinitis Pigmentosa, External Ophthalmoplegia, and Complete Heart Block

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970787-1

Ocular clinicopathologic study of the mitochondrial encephalomyopathy overlap syndromes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970787-1

Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970787-1

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970787-1

MELAS: clinical features, biochemistry, and molecular genetics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970787-1

Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970787-1

Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970787-1

Macular pattern dystrophy associated with a mutation of mitochondrial DNA.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970787-1

A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970787-1

Rapid and noninvasive screening of patients with mitochondrial myopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970787-1

Leber's hereditary optic neuropathy and Kearns-Sayre syndrome: mitochondrial DNA mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970787-1

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

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970787-1

Pattern Dystrophy of the Retinal Pigment Epithelium

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970787-1

Pigment epithelial pattern dystrophy. Four different manifestations in a family

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970787-1

10.1016/S0002-9394(14)70787-1

7 January 2021

Identifiers

DOI

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29 November 2017

1 reference