Three novel MTM1 pathogenic variants identified in Japanese patients with X‐linked myotubular myopathy
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DOI: 10.1002/mgg3.621
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… read more here.
Keywords: pathogenic variants; linked myotubular; mtm1 pathogenic; three novel ... See more keywords
Gene therapy strategies for X-linked myotubular myopathy
Sign Up to like & getrecommendations! Published in 2018 at "Expert Opinion on Orphan Drugs"
DOI: 10.1080/21678707.2018.1443807
Abstract: ABSTRACT Introduction: X-linked myotubular myopathy (XLMTM) is a severe, frequently fatal, type of congenital myopathy for which only supportive care is currently available. XLMTM is due to MTM1 mutations that lead to a deficiency in… read more here.
Keywords: gene therapy; linked myotubular; gene; xlmtm ... See more keywords
A natural history study of X-linked myotubular myopathy
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DOI: 10.1212/wnl.0000000000004415
Abstract: Objective: To define the natural history of X-linked myotubular myopathy (MTM). Methods: We performed a cross-sectional study that included an online survey (n = 35) and a prospective, 1-year longitudinal investigation using a phone survey… read more here.
Keywords: linked myotubular; study; natural history; history study ... See more keywords
X-linked myotubular myopathy
Sign Up to like & getrecommendations! Published in 2017 at "Neurology"
DOI: 10.1212/wnl.0000000000004428
Abstract: The congenital myopathies (CMs) are a cluster of genetic disorders affecting myofiber structure and function. The salient clinical features are hypotonia, weakness, and motor impairment. The presentation varies from the most severe impairment in the… read more here.
Keywords: neurology; linked myotubular; myopathy; myotubular myopathy ... See more keywords
X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene
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DOI: 10.3390/ijms24098409
Abstract: X-linked centronuclear myopathy is caused by pathogenic variants in the MTM1 gene, which encodes myotubularin, a phosphatidylinositol 3-phosphate (PI3P) phosphatase. This form of congenital myopathy predominantly affects males. This study presents a case of X-linked… read more here.
Keywords: variant mtm1; linked myotubular; myopathy female; myotubular myopathy ... See more keywords