Title: Limb-Girdle Muscular Dystrophy Due to Emerin Gene Mutations
Abstract: <h3>Background</h3> Emery-Dreifuss muscular dystrophy, caused by<i>EMD</i>gene mutations, is characterized by humeroperoneal muscular dystrophy, joint contractures, and conduction defects and is often associated with sudden cardiac death, even without prior cardiac symptoms. <h3>Objective</h3> To describe the clinical and molecular features of 2 patients with limb-girdle muscular dystrophy with mutations in<i>EMD</i>. <h3>Design</h3> Case reports. <h3>Setting</h3> Academic research. <h3>Patients</h3> Two male patients manifested proximal dominant muscle involvement, with minimal or no joint and cardiac involvement. <h3>Main Outcome Measures</h3> Muscle biopsy and mutation analysis results. <h3>Results</h3> Immunohistochemistry revealed an absence of emerin staining in muscle biopsy specimens. Mutation analysis identified nonsense mutations in<i>EMD.</i> <h3>Conclusions</h3> Mutations in<i>EMD</i>may indicate a limb-girdle muscular dystrophy phenotype. Identification of emerin deficiency among patients with limb-girdle muscular dystrophy is essential to prevent cardiac catastrophe.
Publication Year: 2007
Publication Date: 2007-07-01
Language: en
Type: article
Indexed In: ['crossref', 'pubmed']
Access and Citation
Cited By Count: 40
AI Researcher Chatbot
Get quick answers to your questions about the article from our AI researcher chatbot