کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3080949 | 1189360 | 2009 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification
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موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
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چکیده انگلیسی
We report a 2-year-old boy who presented with marked hypotonia and was dependent on artificial ventilation since birth. He was diagnosed with nemaline (actin) myopathy, based on the cytoplasmic accumulation of thin filament aggregates and marked myofibrillar dysgenesis. Intranuclear rods and dispersed tiny nemaline bodies were also observed. The patient was shown to be heterozygous for a de novo mutation, c.430C>T (p.Leu144Phe), in the α-actin (ACTA1) gene. He also showed orbital osteosclerosis, longitudinal striations of the iliac bones, hepatomegaly, undescended testis, a unilateral vesico-ureteric stenosis, severe failure to thrive, and dilatation of the lateral cerebral ventricles. Besides the severe muscle involvement, these clinical findings further broaden the clinical spectrum of actinopathy phenotypes.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 19, Issue 7, July 2009, Pages 485-488
Journal: Neuromuscular Disorders - Volume 19, Issue 7, July 2009, Pages 485-488
نویسندگان
Asako Arai, Satomi Mitsuhashi, Yoshiaki Saito, Hirofumi Komaki, Hiroshi Sakuma, Eiji Nakagawa, Kenji Sugai, Masayuki Sasaki, Stephen P. Robertson, Gen Nishimura, Toshiyuki Yamamoto, Ikuya Nonaka, Ichizo Nishino,