Zobrazeno 1 - 1
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pro vyhledávání: '"Maria Del Rosario Ortolá Martínez"'
Autor:
Javier A Muntadas, Martin R Hyland, Maria Del Rosario Ortolá Martínez, Jaime N Young, Jessica X Chong, Michael J Bamshad, Ricardo A. Maselli
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-6 (2024)
Abstract Background Congenital Myasthenic Syndromes (CMS) are rare genetic diseases, which share as a common denominator muscle fatigability due to failure of neuromuscular transmission. A distinctive clinical feature of presynaptic CMS variants caus
Externí odkaz:
https://doaj.org/article/4f011b51e66d4d5fb4a9144d6fe805b8
