Kimura S, Sugino S, Ohtani Y, Matsukura M, Nishino I, Ikezawa M, Sakata A, Kondo Y, Yoshioka K, Huard J, Nonaka I, Miike T
Department of Child Development, Kumamoto University School of Medicine, Japan.
Ann Neurol. 1998 Dec;44(6):967-71. doi: 10.1002/ana.410440618.
We report on the first case of X-linked recessive myotubular myopathy (MTM1) coinciding with Duchenne muscular dystrophy (DMD). The muscle biopsy specimens of the patient show only the characteristic findings of MTM1, without the findings of DMD. We theorize that this was caused by the muscle fiber immaturity and inactivity.
我们报告首例X连锁隐性肌管性肌病(MTM1)与杜氏肌营养不良症(DMD)并存的病例。该患者的肌肉活检标本仅显示MTM1的特征性表现,而无DMD的表现。我们推测这是由肌纤维不成熟和不活动所致。