Ontology highlight
ABSTRACT:
SUBMITTER: Raffaele Di Barletta M
PROVIDER: S-EPMC1288205 | biostudies-literature | 2000 Apr
REPOSITORIES: biostudies-literature
American journal of human genetics 20000316 4
Emery-Dreifuss muscular dystrophy (EMD) is a condition characterized by the clinical triad of early-onset contractures, progressive weakness in humeroperoneal muscles, and cardiomyopathy with conduction block. The disease was described for the first time as an X-linked muscular dystrophy, but autosomal dominant and autosomal recessive forms were reported. The genes for X-linked EMD and autosomal dominant EMD (AD-EMD) were identified. We report here that heterozygote mutations in LMNA, the gene f ...[more]