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Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome
Congenital myasthenic syndrome (CMS) is a group of 32 disorders involving genetic dysfunction at the neuromuscular junction resulting in skeletal muscle weakness that worsens with physical activity. Precise diagnosis and molecular subtype identification are critical for treatment as medication for o...
Autores principales: | , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cold Spring Harbor Laboratory Press
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9808558/ https://www.ncbi.nlm.nih.gov/pubmed/36379720 http://dx.doi.org/10.1101/mcs.a006242 |