Novel Splicing Mutation in <i>MTM1</i> Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy

Novel Splicing Mutation in <i>MTM1</i> 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 <i>MTM1</i> gene. NGS targeted sequencing on the DNA of a three-month-old child affected by XLM...

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Bibliographic Details
Main Authors: Luca Bosco, Daniela Leone, Laura Costa Comellas, Mauro Monforte, Marika Pane, Eugenio Mercuri, Enrico Bertini, Adele D’Amico, Fabiana Fattori
Format: Article
Language:English
Published: MDPI AG 2022-09-01
Series:International Journal of Molecular Sciences
Subjects:
<i>MTM1</i>
splicing
XLMTM
myotubular myopathy
novel mutation
NGS
Online Access:https://www.mdpi.com/1422-0067/23/18/10274

Internet

https://www.mdpi.com/1422-0067/23/18/10274

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