Emery-Dreifuss Muscular Dystrophy: A Novel Mutation in the LMNA

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• 作者：Petra Laš ; š ; uthová ; Lucia Bará ; nková ; Josef Kraus ; Tat'á ; na Mař ; í ; ková ; Pavel Seeman
• 刊名：Pediatric Neurology
• 出版年：2009
• 出版时间：August 2009
• 年：2009
• 卷：41
• 期：2
• 页码：127-130
• 全文大小：209 K

文摘

Described here is the phenotypical expression of a novel LMNA mutation c.1157 G>T in a Czech patient with an early-onset form of Emery-Dreifuss muscular dystrophy. The mutation predicts aberrant splicing. Now 21 years old, the patient has had slowly progressing muscle dystrophy since the age of one and early contractures of elbows. He is the only family member affected. Even though the dystrophy typically affects the heart as well, in the present case these signs are not yet expressed.