Mitochondrial diseases: molecular mechanisms, clinical presentations and diagnosis investigations (Q46835436)

25 December 2017

review article

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title

Mitochondrial diseases: molecular mechanisms, clinical presentations and diagnosis investigations (English)

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25 December 2017

author name string

Karine Auré

series ordinal

1

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25 December 2017

Claude Jardel

series ordinal

2

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25 December 2017

Anne Lombès

series ordinal

3

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25 December 2017

language of work or name

French

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publication date

1 September 2005

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25 December 2017

published in

Annales de Pathologie

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25 December 2017

volume

25

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25 December 2017

issue

4

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25 December 2017

page(s)

270-281

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25 December 2017

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

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Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

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Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation

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

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A MERRF/PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation

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Retinitis Pigmentosa, External Ophthalmoplegia, and Complete Heart Block

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KEARNS-SAYRE SYNDROME WITH MUSCLE MITOCHONDRIAL DNA DELETION

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Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

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Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

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Mitochondrial DNA deletion: a cause of chronic tubulointerstitial nephropathy

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A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction

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A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome

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The first nuclear-encoded complex I mutation in a patient with Leigh syndrome

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Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome

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7 January 2021

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

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7 January 2021

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

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7 January 2021

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency

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7 January 2021

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

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7 January 2021

The diagnosis of mitochondrial muscle disease.

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7 January 2021

In vivo functional investigations of lactic acid in patients with respiratory chain disorders

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7 January 2021

Morphological studies of skeletal muscle in lactic acidosis

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7 January 2021

Biochemical and molecular investigations in respiratory chain deficiencies

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7 January 2021

MITOMAP: an update on the status of the human mitochondrial genome database

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7 January 2021

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

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7 January 2021

Genotypes and clinical phenotypes in children with cytochrome-c oxidase deficiency

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7 January 2021

10.1016/S0242-6498(05)80131-2

Identifiers

DOI

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25 December 2017

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25 December 2017