POMT1表型的临床谱扩大

• 作 者: D' Amico A. Tessa A. Bruno C. F.M. Santorelli 高宗强
• 机 构: Molecular Medicine and Neurology IRCCS Bambino Gesù Children' s Hospital Piazza S. Onofrio 4 00165
• 出 处: 世界核心医学期刊文摘(神经病学分册)
• 发表日期: 2006年10期
• 关键词: 表型 精神发育迟缓 运动障碍 畸形 综合征 POMT1

Mutations in POMT1 have been identified in Walker- Warburg syndrome and in patients with limb- girdle muscular dystrophy and mental retardation (LGMD2K). The authors report new POMT1 mutations in three unrelated children with severe motor impairment, leg hypertrophy, and mental retardation but without brain and ocular malformations. These patients are similar to LGMD2K but have earlier onset and more severe motor disability. The current findings expand the spectrum of POMT1- associated phenotypes.

Mutations in POMT1 have been identified in Walker-Warburg syndrome and in patients with limb-girdle muscular dystrophy and mental retardation (LGMD2K). The authors report new POMT1 mutations in three unrelated children with severe motor impairment, leg hypertrophy, and mental retardation but without brain and ocular malformations. These patients are similar to LGMD2K but have earlier onset and more severe motor disability. The current findings expand the spectrum of POMT1-associated phenotypes.