Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). (Q33893745)

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30 October 2019

title

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300) (English)

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30 October 2019

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1

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30 October 2019

Valérie Cormier-Daire

2

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30 October 2019

author name string

Chatelain P

3

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30 October 2019

Francois R

4

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30 October 2019

Saudubray JM

5

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Rustin P

6

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Munnich A

7

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30 October 2019

language of work or name

English

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publication date

1 March 1993

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Journal of Clinical Investigation

30 October 2019

published in

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volume

91

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30 October 2019

issue

3

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30 October 2019

page(s)

1095-1098

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A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study

30 October 2019

cites work

1 reference

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Sequence and organization of the human mitochondrial genome

5 July 2018

1 reference

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Maternal inheritance of human mitochondrial DNA

5 July 2018

1 reference

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Kearns-Sayre syndrome with muscle mitochondrial DNA deletion

5 July 2018

1 reference

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Mitochondrial DNA mutations and neuromuscular disease

5 July 2018

1 reference

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Duplications of mitochondrial DNA in mitochondrial myopathy

5 July 2018

1 reference

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Thiamine-responsive anemia in DIDMOAD syndrome

5 July 2018

1 reference

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Maternally transmitted histocompatibility antigen of mice: a hydrophobic peptide of a mitochondrially encoded protein

5 July 2018

1 reference

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The measurement of the rotenone-sensitive NADH cytochrome c reductase activity in mitochondria isolated from minute amount of human skeletal muscle.

5 July 2018

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Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy

5 July 2018

1 reference

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Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD syndrome). A clinical study in two Sudanese families

5 July 2018

1 reference

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Assessment of the mitochondrial respiratory chain

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288064

Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288064

Clinical aspects of mitochondrial disorders

5 July 2018

1 reference

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A mitochondrial encephalomyopathy with specific deficiencies of two respiratory chain polypeptides and a circulating autoantibody to a mitochondrial matrix protein.

5 July 2018

1 reference

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Defective insulin response to intravenous glucose in congenital lactic acidosis

29 October 2018

1 reference

12 December 2020

Growth hormone neurosecretory dysfunction. A treatable cause of short stature

1 reference

12 December 2020

Linkage between the genes for Wolfram syndrome and brachydactyly E

1 reference

12 December 2020

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

12 December 2020

Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion

1 reference

12 December 2020

Hepatic failure in disorders of oxidative phosphorylation with neonatal onset

1 reference

12 December 2020

Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI116267

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8383698%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

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30 October 2019

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