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先天性肌纖維類型不均1例報(bào)告

發(fā)布時(shí)間:2018-03-26 01:23

  本文選題:肌纖維類型 切入點(diǎn):肌張力低下 出處:《中風(fēng)與神經(jīng)疾病雜志》2017年05期


【摘要】:正先天性肌病(congential myopathy,CM)是一組發(fā)病年齡較早的具有臨床和遺傳異質(zhì)性的神經(jīng)肌肉疾病,主要臨床表現(xiàn)為全身性肌無力、肌張力低下,常伴有先天性骨骼畸形,偶有心肌受累和呼吸功能異常,臨床嚴(yán)重程度和發(fā)病年齡具有多變性~([1,2]),病情相對穩(wěn)定或緩慢進(jìn)展。先天性肌纖維類型不均(congenital fiber type disproportion,CFTD)是一種比較罕
[Abstract]:Congential myopathy (CMCM) is a group of neuromuscular diseases with clinical and genetic heterogeneity at an early age. The main clinical manifestations are generalized myasthenia, hypotonia and congenital skeletal malformation. Occasionally, cardiac muscle involvement and respiratory dysfunction, clinical severity and age of onset are polymorphic ([1 / 2], and the condition is relatively stable or slowly progressing. Congenital fiber type asymmetry) is a rare disease.
【作者單位】: 吉林大學(xué)白求恩第一醫(yī)院神經(jīng)內(nèi)科和神經(jīng)科學(xué)中心;
【分類號(hào)】:R746
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本文編號(hào):1665711

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