A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1.
作者信息
Ame van der Beek Nadine, Nelson Isabelle, Froissart Roseline, Levade Thierry, Garcia Virginie, Lacene Emmanuelle, Boland Anne, Masson Cécile, Romero Norma B, Stojkovic Tanya, Bonne Gisèle, Béhin Anthony
机构信息
Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS 974, Center of Research in Myology, Institut de Myologie, F-75013, Paris, France.
出版信息
Eur J Hum Genet. 2019 Mar;27(3):337-339. doi: 10.1038/s41431-018-0250-z. Epub 2018 Oct 5.
Abstract
摘要
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6
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Neuromuscul Disord. 2015 Dec;25(12):959-63. doi: 10.1016/j.nmd.2015.09.007. Epub 2015 Sep 16.
7
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8
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9
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