Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency

A 29-year-old man developed, since the age of 18, exercise intolerance and exercise-induced rhabdomyolysis, with myoglobinuria. Muscle biopsy showed ragged-red fibers. Multiple mitochondrial DNA deletions were detected. The previously reported pathogenic homozygous mutation c.323C>T (p.Thr108Met)...

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Bibliografiske detaljer
Udgivet i:Mol Genet Metab Rep
Main Authors: de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Morís, Germán, Jiménez-Mallebrera, Cecilia, Badosa, Carmen, Hernández-Laín, Aurelio, Blázquez Encinar, Alberto, Martín, Miguel Ángel, Domínguez-González, Cristina
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2021
Fag:
Short Communication
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7797901/
https://ncbi.nlm.nih.gov/pubmed/33457207
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100701
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