Associated Papers
A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401 + 1G > A) in CLCN1 gene of a Chinese Han patient.
Miao J et al.
Bmc Neurology, 2018
The Dystrophic and Nondystrophic Myotonias.
Sansone VA
Continuum (minneapolis, Minn.), 2016
In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay.
Ulzi G et al.
Molecular Biology Reports, 2014
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