{"id":1681,"date":"2021-12-09T02:49:23","date_gmt":"2021-12-09T02:49:23","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1681"},"modified":"2026-02-23T01:10:06","modified_gmt":"2026-02-23T01:10:06","slug":"phenotypic-spectrum-and-clinical-course-of-single-large-scale-mitochondrial-dna-deletion-disease-in-the-paediatric-population-a-multicentre-study","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2021\/12\/09\/phenotypic-spectrum-and-clinical-course-of-single-large-scale-mitochondrial-dna-deletion-disease-in-the-paediatric-population-a-multicentre-study\/","title":{"rendered":"Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study (Contributed by Mr. Kristoffer Bj\u00f6rkman)"},"content":{"rendered":"

Large-scale mitochondrial DNA deletions are one of the most common causes of mitochondrial disease. The presentation varies greatly and understanding of the disease course has remained unclear. This large study of 80 patients with disease onset in childhood provides a detailed and improved insight into the characteristic symptoms, signs and course of the disease. It demonstrates that a broad spectrum of age-dependent multi-organ involvement is frequent. The findings will be of help in identifying affected patients and point to the importance of coordinated multidisciplinary follow up. (https:\/\/jmg.bmj.com\/content\/early\/2021\/12\/05\/jmedgenet-2021-108006<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Large-scale mitochondrial DNA deletions are one of the most common causes of mitochondrial disease. The presentation varies greatly and understanding of the disease course has remained unclear. This large study of 80 patients with disease onset in childhood provides a detailed and improved insight into the characteristic symptoms, signs and course of the disease. It […]<\/p>\n

Read More…<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1681","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nPhenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study (Contributed by Mr. Kristoffer Bj\u00f6rkman) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/12\/09\/phenotypic-spectrum-and-clinical-course-of-single-large-scale-mitochondrial-dna-deletion-disease-in-the-paediatric-population-a-multicentre-study\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study (Contributed by Mr. Kristoffer Bj\u00f6rkman) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Large-scale mitochondrial DNA deletions are one of the most common causes of mitochondrial disease. The presentation varies greatly and understanding of the disease course has remained unclear. This large study of 80 patients with disease onset in childhood provides a detailed and improved insight into the characteristic symptoms, signs and course of the disease. 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