Ontology highlight
ABSTRACT:
SUBMITTER: Araujo CET
PROVIDER: S-EPMC6821760 | biostudies-literature | 2019 Oct
REPOSITORIES: biostudies-literature
Araújo C E T CET Oliveira C M C CMC Barbosa J D JD Oliveira-Filho J P JP Resende L A L LAL Badial P R PR Araujo-Junior J P JP McCue M E ME Borges A S AS
Scientific reports 20191030 1
Mutations in the CLCN1 gene are the primary cause of non-dystrophic Hereditary Myotonia in several animal species. However, there are no reports of Hereditary Myotonia in pigs to date. Therefore, the objective of the present study was to characterize the clinical and molecular findings of Hereditary Myotonia in an inbred pedigree. The clinical, electromyographic, histopathological, and molecular findings were evaluated. Clinically affected pigs presented non-dystrophic recessive Hereditary Myoto ...[more]