Article
Limb-girdle muscular dystrophy due to emerin gene mutations.
Archives of neurology - 1 Jul 2007
Ura Shigehisa, Hayashi Yukiko K, Goto Kanako, Astejada Mina Nolasco, Murakami Terumi, Nagato Masako, Ohta Shigeru, Daimon Yasuhisa, Takekawa Hidehiro, Hirata Koichi, Nonaka Ikuya, Noguchi Satoru, Nishino Ichizo
Abstract excerpt
BACKGROUND: Emery-Dreifuss muscular dystrophy, caused by EMD 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. OBJECTIVE: To describe the clinical and molecular features of 2 patients with limb-girdle muscular dystrophy with mutations in EMD. DESIGN: Case reports....
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