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Article

[Strategy in diagnosis of mitochondrial diseases].

Pathologie-biologie - 1 Oct 2010

Lebre A-S

Abstract excerpt

Mitochondrial diseases (MD) are the most frequent metabolic disorders. They have in common a respiratory chain deficiency. Clinical presentation of MD is very heterogeneous and the major physiological functions may be affected. Diagnosis is complex due to the potential involvement of two genomes (nuclear or mitochondrial DNA), the large number of candidate genes to screen and the small number of patients reported...

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Identifiers

PMID: 19942370
DOI: 10.1016/j.patbio.2009.09.012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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