https://scholars.lib.ntu.edu.tw/handle/123456789/620383
DC 欄位 | 值 | 語言 |
---|---|---|
dc.contributor.author | Fan, Sung-Pin | en_US |
dc.contributor.author | HSUEH-WEN HSUEH | en_US |
dc.contributor.author | HSIN-CHIEH HUANG | en_US |
dc.contributor.author | Chang, Koping | en_US |
dc.contributor.author | NI-CHUNG LEE | en_US |
dc.contributor.author | PEI-HSIN HUANG | en_US |
dc.contributor.author | Yang, Chih-Chao | en_US |
dc.date.accessioned | 2022-09-15T02:35:28Z | - |
dc.date.available | 2022-09-15T02:35:28Z | - |
dc.date.issued | 2021-09 | - |
dc.identifier.issn | 24056502 | - |
dc.identifier.uri | https://scholars.lib.ntu.edu.tw/handle/123456789/620383 | - |
dc.description.abstract | A 25-year-old man complained of progressive diplopia and limb weakness for 3 years. Mitochondrial myopathy was suspected according to clinical presentation, elevated serum lactate concentration, and muscle histopathology. However, next-generation mtDNA sequencing (mtDNA NGS) of the blood only revealed a likely benign variant in the MT-CO1 gene (m.6510G > A). An mtDNA NGS study on the muscle sample revealed a large mtDNA deletion (m.5788-m.16071). The patient was diagnosed as having CPEO-plus syndrome related to the large mtDNA deletion. Notably, magnetic resonance spectroscopy revealed a doublet peak at 1-2 ppm in his edematous right vastus lateralis, which indicated lactate accumulation. Thus, muscle imaging and appropriate genetic tests facilitated the diagnosis of mitochondrial myopathy. | en_US |
dc.language.iso | en | en_US |
dc.relation.ispartof | eNeurologicalSci | en_US |
dc.subject | CPEO-plus syndrome; Heteroplasmy; MR spectroscopy; Mitochondrial myopathy | en_US |
dc.title | Lactate peak in muscle disclosed by magnetic resonance spectroscopy in a patient with CPEO-plus syndrome | en_US |
dc.type | journal article | en |
dc.identifier.doi | 10.1016/j.ensci.2021.100360 | - |
dc.identifier.pmid | 34377843 | - |
dc.identifier.scopus | 2-s2.0-85111031520 | - |
dc.identifier.url | https://scholars.lib.ntu.edu.tw/handle/123456789/586647 | - |
dc.relation.journalvolume | 24 | en_US |
item.fulltext | no fulltext | - |
item.cerifentitytype | Publications | - |
item.languageiso639-1 | en | - |
item.openairetype | journal article | - |
item.openairecristype | http://purl.org/coar/resource_type/c_6501 | - |
item.grantfulltext | none | - |
crisitem.author.dept | Neurology-NTUH | - |
crisitem.author.dept | Medical Imaging-NTUH | - |
crisitem.author.dept | Pediatrics | - |
crisitem.author.dept | Medical Genetics-NTUH | - |
crisitem.author.dept | Pediatrics-NTUH | - |
crisitem.author.dept | Pathology | - |
crisitem.author.dept | Pathology-NTUH | - |
crisitem.author.orcid | 0000-0003-4707-1861 | - |
crisitem.author.orcid | 0000-0001-5544-8302 | - |
crisitem.author.orcid | 0000-0002-5011-7499 | - |
crisitem.author.orcid | 0000-0002-2414-1487 | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
顯示於: | 醫學院附設醫院 (臺大醫院) |
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