一名女性婴儿因新的MTM1基因突变导致的X连锁性肌管性肌病。
X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation.
作者信息
Schara Ulrike, Kress Wolfram, Tücke Jens, Mortier Wilhelm
机构信息
Department of Pediatrics and Pediatric Neurology, Ruhr-University Bochum, Germany.
出版信息
Neurology. 2003 Apr 22;60(8):1363-5. doi: 10.1212/01.wnl.0000058763.90924.fa.
Abstract
X-linked myotubular myopathy usually affects male infants with a severe phenotype leading to early death or survival with severe handicaps. Female carriers have been reported manifesting in childhood with slowly progressive muscle weakness only. The authors describe a now 5-year-old girl with prenatal/neonatal onset of an X-linked myotubular myopathy due to a 605delT mutation in the myotubularin gene.
摘要
X连锁性肌管性肌病通常影响男性婴儿，其严重表型会导致早期死亡或严重残疾存活。据报道，女性携带者仅在儿童期表现为缓慢进展的肌肉无力。作者描述了一名现年5岁的女孩，由于肌管素基因中的605delT突变，在产前/新生儿期就发病患X连锁性肌管性肌病。
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