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X‐linked myotubular myopathy (XLMTM) is a form of the severest congenital muscle diseases characterized by marked muscle weakness, hypotonia, and feeding and breathing difficulties in male infants. It is caused… Click to show full abstract
X‐linked myotubular myopathy (XLMTM) is a form of the severest congenital muscle diseases characterized by marked muscle weakness, hypotonia, and feeding and breathing difficulties in male infants. It is caused by mutations in the myotubularin gene (MTM1).
Keywords:
pathogenic variants;
linked myotubular;
mtm1 pathogenic;
three novel;
novel mtm1;
myotubular myopathy
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2019
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2019
Link to full text (if available)
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recommendations!