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. |
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| 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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| ISSN: | 1422-0067 |
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| DOI: | 10.3390/ijms26157128 |
