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Miopatía miotubular ligada al cromosoma X: informe clínico y revisión del fenotipo leve
INTRODUCTION. X-linked myotubular myopathy is a rare centronuclear myopathy that affects approximately 1 in 50,000 male newborns caused by pathogenic variants in the myotubularin 1 gene (MTM1). The clinical severity varies, however the need for ventilatory support occurs almost invariably. CASE REPO...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Viguera Editores (Evidenze Group)
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10478115/ http://dx.doi.org/10.33588/rn.7607.2021447 |