Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome

• Tác giả: Alessandro Achilli, Piero Barboni, Leonardo Caporali, Valerio Carelli, Anna Maria Ghelli, Luisa Iommarini, Chiara La Morgia, Rocco Liguori, Raffaele Lodi, Andrea Martinuzzi, Anna Olivieri, Gaia Tioli, Caterina Tonon, Antonio Torroni, Concetta Valentina Tropeano, Maria Lucia Valentino
• Ngôn ngữ: eng
• Thông tin xuất bản: Switzerland : International journal of molecular sciences , 2025
• Bộ sưu tập: NCBI
• ID: 70131

Tóm tắt

 We report on a sporadic patient suffering Leigh syndrome characterized by bilateral lesions in the lenticular nuclei and spastic dystonia, intellectual disability, sensorineural deafness, hypertrophic cardiomyopathy, exercise intolerance, and retinitis pigmentosa. Complete sequencing of mitochondrial DNA revealed the heteroplasmic nucleotide change m.15635T>
 C affecting a highly conserved amino acid position (p.Ser297Pro) in the cytochrome