Ontology highlight
ABSTRACT:
SUBMITTER: Evans JM
PROVIDER: S-EPMC5100356 | biostudies-literature | 2016 Oct
REPOSITORIES: biostudies-literature
Evans Jacquelyn M JM Cox Melissa L ML Huska Jonathan J Li Frank F Gaitero Luis L Guo Ling T LT Casal Margaret L ML Granzier Henk L HL Shelton G Diane GD Clark Leigh Anne LA
Mammalian genome : official journal of the International Mammalian Genome Society 20160523 9-10
Nemaline myopathy (NM) is a congenital muscle disorder associated with muscle weakness, hypotonia, and rod bodies in the skeletal muscle fibers. Mutations in 10 genes have been implicated in human NM, but spontaneous cases in dogs have not been genetically characterized. We identified a novel recessive myopathy in a family of line-bred American bulldogs (ABDs); rod bodies in muscle biopsies established this as NM. Using SNP profiles from the nuclear family, we evaluated inheritance patterns at c ...[more]