(Q33792208)

29 July 2017

title

Does the patient have a mitochondrial encephalomyopathy? (English)

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29 July 2017

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S DiMauro

1

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29 July 2017

E Bonilla

series ordinal

2

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29 July 2017

D C De Vivo

series ordinal

3

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29 July 2017

publication date

1 November 1999

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Journal of Child Neurology

29 July 2017

published in

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29 July 2017

volume

14 Suppl 1

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29 July 2017

page(s)

S23-35

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Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families

29 July 2017

cites work

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Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit

21 January 2018

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Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.

21 January 2018

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Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

21 January 2018

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The mitochondrial A3243G mutation presenting as severe cardiomyopathy

21 January 2018

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Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin

21 January 2018

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A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.

21 January 2018

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Mitochondrial DNA mutations and pathogenesis

21 January 2018

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

21 January 2018

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Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy

21 January 2018

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Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase

21 January 2018

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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder

21 January 2018

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Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter.

21 January 2018

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Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

21 January 2018

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Near-infrared spectroscopy in the diagnosis of mitochondrial disorders

21 January 2018

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Phosphorus magnetic resonance spectroscopy (31P MRS) in neuromuscular disorders

21 January 2018

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Nuclear power and mitochondrial disease

21 January 2018

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Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome

21 January 2018

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Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome

21 January 2018

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SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

21 January 2018

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Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

21 January 2018

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Localization of the Wilson's disease protein product to mitochondria

21 January 2018

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Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

21 January 2018

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10.1177/0883073899014001051

21 January 2018

Identifiers

DOI

0 references

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