کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3038627 | 1184480 | 2006 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
A case of congenital neuromuscular disease with uniform type 1 fibers
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: A case of congenital neuromuscular disease with uniform type 1 fibers A case of congenital neuromuscular disease with uniform type 1 fibers](/preview/png/3038627.png)
چکیده انگلیسی
Congenital neuromuscular disease with uniform type 1 fibers is a rare form of congenital nonprogressive myopathy. We report a 3-year-old boy with this disease who showed delayed motor developmental milestones and recurrent acute respiratory failure. He obtained head control at 16 months, crawled at 17 months and sat alone at 20 months, but still could not walk at age 44 months. His mental development was good; he could speak 3-word sentences at 44 months. Scoliosis, bilateral congenital dislocation of the hips, bilateral undescended testes and hemangioma simplex on the right lower limb were also seen. Muscle biopsy at the age of 8 months showed more than 99% of the myofibers were type 1. This is the first case of congenital neuromuscular disease with uniform type 1 fibers accompanied by recurrent acute respiratory failure. This case may be clinically more severe than previously reported cases.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Brain and Development - Volume 28, Issue 3, April 2006, Pages 202-205
Journal: Brain and Development - Volume 28, Issue 3, April 2006, Pages 202-205
نویسندگان
Haruko Maeda Sakamoto, Mieko Yoshioka, Masahiro Tsuji, Shigekazu Kuroki, Yoshihisa Higuchi, Ikuya Nonaka, Ichizo Nishino,