Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy [PDF]
Annals of Child Neurology, 2022 Purpose X-linked myotubular myopathy (XLMTM) is a rare condition of centronuclear myopathy caused by myotubularin 1 (MTM1) mutations. Patients with XLMTM show different neurodevelopmental outcomes after the neonatal period depending on age and acquired ...
Hyewon Woo +10 more
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Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish. [PDF]
PLoS Genetics, 2013 X-linked myotubular myopathy (XLMTM) is a congenital disorder caused by mutations of the myotubularin gene, MTM1. Myotubularin belongs to a large family of conserved lipid phosphatases that include both catalytically active and inactive myotubularin ...
Vandana A Gupta +11 more
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Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies
Orphanet Journal of Rare Diseases, 2021 Background X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from pathogenic variants in the MTM1 gene. Affected male subjects typically present with severe hypotonia and respiratory distress at birth and they often require ...
Adele D’Amico +10 more
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The predictive value of models of neuromuscular disorders to potentiate clinical translation
Disease Models & Mechanisms, 2022 Neuromuscular disorders (NMDs) are a heterogenous group of rare inherited diseases that compromise the function of peripheral nerves and/or muscles. With limited treatment options available, there is a growing need to design effective preclinical studies
Maaike van Putten
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Egyptian Journal of Medical Human Genetics, 2021 Background The X-linked myotubular myopathy (XLMTM) is a rare congenital disease. Its main symptoms are hypotonia, dysmorphic facial features, respiratory failure, and feeding disorder. Case presentation This study reports on a male patient from Neonatal
Aleksandra Dudzik +8 more
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Stem Cell Research, 2023 Centronuclear myopathies (CNMs) are a group of inherited rare muscle disorders characterised by the abnormal position of the nucleus in the center of the muscle fiber.
Liani G. Devito +4 more
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Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice
Nature Communications, 2017 X-linked myotubular myopathy is caused by mutations in the gene coding for myotubularin 1, and is characterized by overexpression of dynamin 2. Here the authors develop antisense oligonucleotides to dynamin 2, and show that systemic injection leads to ...
Hichem Tasfaout +9 more
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Use of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) in X-Linked Myotubular Myopathy: Content Validity and Psychometric Performance. [PDF]
J Neuromuscul Dis, 2021 peer reviewedX-linked myotubular myopathy (XLMTM) is a life-threatening, congenital myopathy characterized by extreme hypotonia, weakness, delayed motor milestones, and respiratory failure, often resulting in pediatric mortality. This study evaluated the
Duong T +16 more
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Myotubular/centronuclear myopathy and central core disease [PDF]
, 2010 The term congenital myopathy is applied to muscle disorders presenting with generalized muscle weakness and hypotonia from early infancy with delayed developmental milestones.
Fujimura-Kiyono, Chieko +2 more
core +1 more source
Molecular Therapy: Nucleic Acids, 2023 Dynamin 2 (DNM2) is a ubiquitously expressed GTPase regulating membrane trafficking and cytoskeleton dynamics. Heterozygous dominant mutations in DNM2 cause centronuclear myopathy (CNM), associated with muscle weakness and atrophy and histopathological ...
Juliana de Carvalho Neves +3 more
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