由emerin基因突变引起的肢带型肌营养不良症。
Limb-girdle muscular dystrophy due to emerin gene mutations.
作者信息
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
机构信息
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8502, Japan.
出版信息
Arch Neurol. 2007 Jul;64(7):1038-41. doi: 10.1001/archneur.64.7.1038.
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.
SETTING
Academic research.
PATIENTS
Two male patients manifested proximal dominant muscle involvement, with minimal or no joint and cardiac involvement.
MAIN OUTCOME MEASURES
Muscle biopsy and mutation analysis results.
RESULTS
Immunohistochemistry revealed an absence of emerin staining in muscle biopsy specimens. Mutation analysis identified nonsense mutations in EMD.
CONCLUSIONS
Mutations in EMD 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.
背景
由EMD基因突变引起的埃默里-德赖富斯肌营养不良症，其特征为肱腓肌营养不良、关节挛缩和传导缺陷，即使没有先前的心脏症状，也常与心源性猝死相关。
目的
描述2例伴有EMD基因突变的肢带型肌营养不良症患者的临床和分子特征。
设计
病例报告。
单位
学术研究机构。
患者
两名男性患者表现为近端为主的肌肉受累，关节和心脏受累轻微或无受累。
主要观察指标
肌肉活检和突变分析结果。
结果
免疫组织化学显示肌肉活检标本中emerin染色缺失。突变分析确定了EMD中的无义突变。
结论
EMD基因突变可能提示肢带型肌营养不良症表型。在肢带型肌营养不良症患者中识别emerin缺乏对于预防心脏灾难至关重要。
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