Twenty-one-year follow-up of variable onset MELAS syndrome with heteroplasmic nt3243A>G mtDNA mutation: A case report

Author:

Song Wung Joo12,Lee Yoon Jin3,Kang Joon Won3,Chang Mea Young3,Song Kyu Sang4,Kang Dae Young4,Kim Sook Za12ORCID

Affiliation:

1. KSZ Children’s Hospital, Cheongju, Korea

2. Korea Genetics Research Center, Cheongju, Korea

3. Department of Pediatrics, Chungnam National University School of Medicine, Daejeon, Korea

4. Department of Pathology, Chungnam National University School of Medicine, Daejeon, Korea

Publisher

Korean Society of Medical Genetics

Subject

General Medicine

Reference16 articles.

1. 2001) . MELAS synonyms: mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes; myopathy, mitochondrial-encephalopathy-lactic acidosis-stroke. GeneReviews® [Internet]. [updated 2018 Nov 29; cited 2018 Dec 20]. https://www.ncbi.nlm.nih.gov/books/NBK1233/

2. MELAS: An original case and clinical criteria for diagnosis

3. Late onset of stroke-like episode associated with a 3256C→T point mutation of mitochondrial DNA

4. Late-Onset Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Strokelike Episodes With Bitemporal Lesions

5. Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

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