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pro vyhledávání: '"Jean‐François Deleuze"'
Autor:
Pascale Marcorelles, Anne Boland, Armelle Magot, Yann Péréon, Jocelyn Laporte, Edoardo Malfatti, Norma B. Romero, Johann Böhm, Cécile Boscher, Jean-François Deleuze, Sandra Mercier, Franck Letournel, Gaëlle Caillaux, Xavière Lornage
Publikováno v:
Neurology
Neurology, 2017, 88, pp.414--416. ⟨10.1212/WNL.0000000000003535⟩
Neurology, 2017, 88, pp.414--416. ⟨10.1212/WNL.0000000000003535⟩
Congenital myopathies are phenotypically and genetically heterogeneous.1 While SCN4A mutations were previously described in hypokalemic or hyperkalemic periodic paralysis, paramyotonia, myotonia congenita, or myasthenic syndrome,2–6 loss-of-functio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb8c8e50bde6c9d54fc92e23132aecbc
https://europepmc.org/articles/PMC5272967/
https://europepmc.org/articles/PMC5272967/