[Clinical and genetic analysis of a patient with slow-channel congenital myasthenic syndrome].
Liu, Yong
[Clinical and genetic analysis of a patient with slow-channel congenital myasthenic syndrome]. [electronic resource] - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics May 2020 - 551-554 p. digital
Publication Type: Case Reports; Journal Article; Review
1003-9406
10.3760/cma.j.issn.1003-9406.2020.05.014 doi
Child
Female
Genetic Testing
Heterozygote
High-Throughput Nucleotide Sequencing
Humans
Mutation
Myasthenic Syndromes, Congenital--genetics
Receptors, Cholinergic--genetics
[Clinical and genetic analysis of a patient with slow-channel congenital myasthenic syndrome]. [electronic resource] - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics May 2020 - 551-554 p. digital
Publication Type: Case Reports; Journal Article; Review
1003-9406
10.3760/cma.j.issn.1003-9406.2020.05.014 doi
Child
Female
Genetic Testing
Heterozygote
High-Throughput Nucleotide Sequencing
Humans
Mutation
Myasthenic Syndromes, Congenital--genetics
Receptors, Cholinergic--genetics