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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Detalles Bibliográficos
Autores principales: Barcia, Giulia, Assouline, Zahra, Pennisi, Alessandra, Steffann, Julie, Boddaert, Nathalie, Gitiaux, Cyril, Rötig, Agnès, Bonnefont, Jean-Paul, Munnich, Arnold
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6706677/
https://www.ncbi.nlm.nih.gov/pubmed/31463198
http://dx.doi.org/10.1016/j.ymgmr.2019.100501
Descripción
Sumario: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 progressive neurodegenerative disorder, akinesia-rigidity, abnormal movements, dementia, and psychiatric disorder. Those two strikingly different clinical presentations emphasize the impact of either mitochondrial factors (heteroplasmy, mitotic segregation) or hitherto unknown nuclear factors on the clinical expression of genetically homogeneous mtDNA mutations.

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