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A Late-Onset and Mild Phenotype of Mitochondrial Complex I Deficiency Due to a Novel Reported Variant Within the ACAD9 Gene.

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Title: A Late-Onset and Mild Phenotype of Mitochondrial Complex I Deficiency Due to a Novel Reported Variant Within the ACAD9 Gene.
Authors: Giguet-Valard AG; Department of Rare Neurological and Neuromuscular Diseases-Martinique University Hospital, 97261 Fort-de-France, Martinique, France.; BIOSPHERES-AREBio Laboratory, 97233 Schoelcher, Martinique, France., Ait-El-Mkadem Saadi S; Genetics Laboratory Department Mitochondrial Pathologies, University Hospital Center of Nice, 06000 Nice, France., Duclos S; Department of Rare Neurological and Neuromuscular Diseases-Martinique University Hospital, 97261 Fort-de-France, Martinique, France., Lacombe D; INSERM U1211, Rare Diseases: Genetics and Metabolism, 33076 Bordeaux, France.; Biological and Medical Sciences Research Department, University of Bordeaux, 33076 Bordeaux, France., Bellance R; Department of Rare Neurological and Neuromuscular Diseases-Martinique University Hospital, 97261 Fort-de-France, Martinique, France., Bellance N; INSERM U1211, Rare Diseases: Genetics and Metabolism, 33076 Bordeaux, France.; Biological and Medical Sciences Research Department, University of Bordeaux, 33076 Bordeaux, France.
Source: International journal of molecular sciences [Int J Mol Sci] 2025 Jul 24; Vol. 26 (15). Date of Electronic Publication: 2025 Jul 24.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A Late-Onset and Mild Phenotype of Mitochondrial Complex I Deficiency Due to a Novel Reported Variant Within the ACAD9 Gene.
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  Data: <searchLink fieldCode="AU" term="%22Giguet-Valard+AG%22">Giguet-Valard AG</searchLink>; Department of Rare Neurological and Neuromuscular Diseases-Martinique University Hospital, 97261 Fort-de-France, Martinique, France.; BIOSPHERES-AREBio Laboratory, 97233 Schoelcher, Martinique, France.<br /><searchLink fieldCode="AU" term="%22Ait-El-Mkadem+Saadi+S%22">Ait-El-Mkadem Saadi S</searchLink>; Genetics Laboratory Department Mitochondrial Pathologies, University Hospital Center of Nice, 06000 Nice, France.<br /><searchLink fieldCode="AU" term="%22Duclos+S%22">Duclos S</searchLink>; Department of Rare Neurological and Neuromuscular Diseases-Martinique University Hospital, 97261 Fort-de-France, Martinique, France.<br /><searchLink fieldCode="AU" term="%22Lacombe+D%22">Lacombe D</searchLink>; INSERM U1211, Rare Diseases: Genetics and Metabolism, 33076 Bordeaux, France.; Biological and Medical Sciences Research Department, University of Bordeaux, 33076 Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Bellance+R%22">Bellance R</searchLink>; Department of Rare Neurological and Neuromuscular Diseases-Martinique University Hospital, 97261 Fort-de-France, Martinique, France.<br /><searchLink fieldCode="AU" term="%22Bellance+N%22">Bellance N</searchLink>; INSERM U1211, Rare Diseases: Genetics and Metabolism, 33076 Bordeaux, France.; Biological and Medical Sciences Research Department, University of Bordeaux, 33076 Bordeaux, France.
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  Data: <searchLink fieldCode="JN" term="%22101092791%22">International journal of molecular sciences</searchLink> [Int J Mol Sci] 2025 Jul 24; Vol. 26 (15). <i>Date of Electronic Publication: </i>2025 Jul 24.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22MDPI%22">MDPI </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101092791 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1422-0067 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214220067%22">14220067 </searchLink><i>NLM ISO Abbreviation: </i>Int J Mol Sci <i>Subsets: </i>MEDLINE
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        Value: 10.3390/ijms26157128
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