J Sun, S Luo, K J Suetterlin, J Song, J Huang, W Zhu, J Xi, L Zhou, J Lu, J Lu, C Zhao, M G Hanna, R Männikkö, E Matthews, K Qiao
Skeletal muscle sodium channelopathies due to SCN4A gene mutations have a broad clinical spectrum. However, each phenotype has been reported in few cases of Chinese origin. We present detailed phenotype and genotype data from a cohort of 40 cases with SCN4A gene mutations seen in neuromuscular diagnostic service in Huashan hospital, Fudan University. Cases were referred from 6 independent provinces from 2010 to 2018. A questionnaire covering demographics, precipitating factors, episodes of paralysis and myotonia was designed to collect the clinical information...
September 2021: Neuromuscular Disorders: NMD