Myotubular myopathy ( XLMTM ) is a usually very severe congenital myopathy associated with major hypotonia at birth.
肌管性肌病 ( XLMTM ) 通常是非常严重的先天性肌病并伴随着大部分肌肉的张力过弱.
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The infantile case presented with failure to thrive , hypotonia, and radiologic rickets at 4 months old.
婴儿型的病人其临床表徵为四个月大时出现发育不良, 肌肉张力低, 以及影像学上有佝偻症之表现.
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