An animal model for Charcot-Marie-Tooth disease type 4B1 [PDF]
, 2017 Charcot-Marie-Tooth disease (CMT) comprises a family of clinically and genetically very heterogeneous hereditary peripheral neuropathies and is one of the most common inherited neurological disorders.
Atanasoski, Suzana +8 more
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X-linked myotubular myopathy in a neonate: a case report and literature review
Frontiers in PediatricsBackgroundX-linked centronuclear myopathy (XLCNM) is a rare congenital neuromuscular disorder caused by pathogenic variants in MTM1, typically presenting with severe neonatal hypotonia, respiratory failure, and poor survival. Early diagnosis is essential
Lin Chen, You-Qun Zou
doaj +1 more source
X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene. [PDF]
Int J Mol Sci, 2023 Chausova P +8 more
europepmc +1 more source
Muscle-specific function of the centronuclear myopathy and Charcot-Marie-Tooth neuropathy-associated dynamin 2 is required for proper lipid metabolism, mitochondria, muscle fibers, neuromuscular junctions and peripheral nerves [PDF]
, 2017 The ubiquitously expressed large GTPase Dynamin 2 (DNM2) plays a critical role in the regulation of intracellular membrane trafficking through its crucial function in membrane fission, particularly in endocytosis.
Pereira, Jorge A. +2 more
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Centronuclear myopathies [PDF]
, 2019 Orientador: Anamarli NucciTese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências MédicasResumo: As miopatias centronuclear (MCN) e miotubular (MMT) são doenças musculares congênitas, estruturais e raras.
Rosa, Tatiana da Silva, 1984-
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Arquivos de Neuro-Psiquiatria, 1975 Un estudio electrofisiológico detallado fué hecho en los músculos extensor corto de los dedos, de la eminencia tenar, de la eminencia hipotenar y soleo en un paciente con el diagnóstico de miopatía miotubular o centronuclear.
Roberto E. P. Sica, Olga P. Sanz
doaj
Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool. [PDF]
Genes (Basel), 2023 Kušíková K +11 more
europepmc +1 more source
Arrhythmias in patients with X-linked myotubular myopathy. [PDF]
Rev Neurol, 2023 Pons-Espinal M +3 more
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Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis [PDF]
, 2019 PURPOSE: Individuals with X-linked myotubular myopathy (XLMTM) who survive infancy require extensive supportive care, including ventilator assistance, wheelchairs and feeding tubes. Half die before 18 months of age.
Alvarez, R +15 more
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