Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy

X-linked myotubular myopathy (XLMTM) is a severe form of centronuclear myopathy, characterized by generalized weakness and respiratory insufficiency, associated with pathogenic variants in the MTM1 gene. NGS targeted sequencing on the DNA of a three-month-old child affected by XLMTM identified the n...

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Detalles Bibliográficos
Autores principales: Bosco, Luca, Leone, Daniela, Costa Comellas, Laura, Monforte, Mauro, Pane, Marika, Mercuri, Eugenio, Bertini, Enrico, D’Amico, Adele, Fattori, Fabiana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9499315/
https://www.ncbi.nlm.nih.gov/pubmed/36142184
http://dx.doi.org/10.3390/ijms231810274

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9499315/
https://www.ncbi.nlm.nih.gov/pubmed/36142184
http://dx.doi.org/10.3390/ijms231810274

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