Expanding the clinical spectrum of MTTF mutations

We report on a de novo m.586G > A MTTF mutation in a 14 yrs old boy with non-progressive muscle weakness, myalgia, normal brain MRI, normal schooling and absent central nervous system involvement. The same m.586G > A MTTF mutation has been previously reported in a 57 yrs-old woman with a progr...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Barcia, Giulia, Assouline, Zahra, Pennisi, Alessandra, Steffann, Julie, Boddaert, Nathalie, Gitiaux, Cyril, Rötig, Agnès, Bonnefont, Jean-Paul, Munnich, Arnold
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2019
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Letter to the Editor
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6706677/
https://ncbi.nlm.nih.gov/pubmed/31463198
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100501
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