Identification of two novel compound heterozygous CLCN1 mutations associated with autosomal recessive myotonia congenita.

Conclusions: Molecular genetics analysis offers an accurate method for diagnosing MC. Our results expand the mutational spectrum of recessive MC.
PMID: 31566103 [PubMed - as supplied by publisher]

Source: Neurological Research - October 2, 2019 Category: Neurology Tags: Neurol Res Source Type: research