[Congenital myopathy with cores and nemaline rods in one family].
[Congenital myopathy with cores and nemaline rods in one family].
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一族先天性核心性肌病和线状杆状肌病[J].
DOI：
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发表时间：
1995
期刊：
影响因子：
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通讯作者：
J. Bautista
中科院分区：
文献类型：
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作者：
J. Casado;C. Arenas;D. Segura;I. Chinchón;R. González;J. Bautista
我们报告一位患有先天性肌病的母亲和两个孩子，三个孩子的临床症状都是面部麻痹，母亲和一个儿子的下肢轻度受累。三名患者均出现骨骼异常、间距过宽、腭弓、跟腱回缩或短颈。症状没有进展，肌肉活检显示母亲的中央核心和杆状，2个儿子只有杆状。母亲也患有腕管综合征，因为常染色体显性遗传的结果，家庭的其他成员。
We present a mother and 2 children with congenital myopathy whose clinical signs were facial paresis in all three, and mild involvement of the lower extremities in the mother and one son. All three presented skeletal abnormalities, hypertelorism, arched palate, retraction of the Achilles tendon or short neck. Symptoms were not progressive and muscle biopsies showed central cores and nemaline rods in the mother and only nemaline rods in the 2 sons. The mother also suffered carpal tunnel syndrome, as had other members of the family as the result of autosomal dominant inheritance.