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   Articles with "linked myotubular" as a keyword



Three novel MTM1 pathogenic variants identified in Japanese patients with X‐linked myotubular myopathy

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recommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"

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

X-Linked Myotubular Myopathy and Mitochondrial Function in Muscle and Liver Samples

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recommendations! Published in 2024 at "Neuropediatrics"

DOI: 10.1055/s-0044-1788333

Abstract: Abstract X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy that commonly manifests with liver involvement. In most XLMTM cases, disease-causing variants have been identified in the myotubularin gene ( MTM1 ) on chromosome Xq28,… read more here.

Keywords: linked myotubular; mrc enzyme; muscle; xlmtm ... See more keywords

Gene therapy strategies for X-linked myotubular myopathy

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recommendations! 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

Myosin inhibition partially rescues the myofibre proteome in X-linked myotubular myopathy.

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recommendations! Published in 2025 at "JCI insight"

DOI: 10.1172/jci.insight.194868

Abstract: X-linked myotubular myopathy (XLMTM) due to MTM1 mutations is a rare and often lethal congenital myopathy. Its downstream molecular and cellular mechanisms are currently incompletely understood. The most abundant protein in muscle, myosin, has been… read more here.

Keywords: myosin; linked myotubular; myosin inhibition; myofibre proteome ... See more keywords
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A natural history study of X-linked myotubular myopathy

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recommendations! Published in 2017 at "Neurology"

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
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X-linked myotubular myopathy

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recommendations! 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

Advances in Gene Therapy for X-Linked Myotubular Myopathy: Current Progress and Future Challenges.

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recommendations! Published in 2025 at "Current gene therapy"

DOI: 10.2174/0115665232388661250430062849

Abstract: read more here.

Keywords: linked myotubular; therapy linked; gene therapy; gene ... See more keywords

X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene

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recommendations! Published in 2023 at "International Journal of Molecular Sciences"

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