Familial non-progressive myopathy with muscle cramps after exercise. A new disease associated with cores in the muscle fibres.
Familial non-progressive myopathy with muscle cramps after exercise. A new disease associated with cores in the muscle fibres.
复制标题
家族性非进行性肌病，运动后伴有肌肉痉挛。
DOI：
10.1093/brain/89.3.569
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发表时间：
1966
期刊：
影响因子：
--
通讯作者：
A. Meijer
中科院分区：
文献类型：
--
作者：
J. Bethlem;J. van Gool;W. C. Hülsmann;A. Meijer
1956年，Shy和Magee描述了一个家族，三代共5名患者，患有非进行性肌病。发病是先天性的或在出生后的头几个月内。张力减退在儿童中很明显，但在成人中不明显。这些患者表现出对称的近端肌肉无力，涉及上肢和下肢。唯一的异常化学发现是尿肌酐排泄过多和肌酐排泄减少。活检标本取自股外侧肌的5例。在几乎每个肌纤维的中心，异常肌原纤维的集合用Gomori三色染色剂染色成亲天青，而外部原纤维染色成正常的红色。一些纤维包含几个（多达五个）病理原纤维区。肌纤维的直径是相等的和正常的，但偶尔纤维有一个非常大的直径（高达240; x）。肌周和肌内膜脂肪组织均中度增加。1958年，格林菲尔德、科曼和希为这种新的肌病引入了”中央核心病”一词。第二份报告由Bethlem和Posthumus Meyjes（1960）发表，他们描述了一个非遗传性病例，在临床和组织学上与Shy和Magee描述的病例相同。
IN 1956 Shy and Magee described a family of 5 patients through three generations, with a non-progressive myopathy. The onset was congenital or within the first months of life. Hypotonia was evident in the children but not in the adults. These patients showed symmetrical proximal muscle weakness involving the upper and lower limbs. The only abnormal chemical finding was excessive urinary creatine excretion and diminished creatinine excretion.Biopsy specimens were obtained from the vastus lateralis in the 5 patients. In the centre of nearly every muscle fibre a collection of abnormal myofibrils stained azurophilically with the Gomori trichrome stain, whereas the outer fibrils stained a normal red. Some fibres contained several (up to five) zones of pathological fibrils. The diameter of the muscle fibres was equal and normal, but occasional fibres had a very large diameter (up to 240; x). There was a moderate increase in both perimysial and endomysial adipose tissue. Greenfield, Cornman and Shy introduced the term" central core disease" for this new myopathy in 1958. The second report was published by Bethlem and Posthumus Meyjes (1960), who described a non-hereditary case which was clinically and histologically identical to the cases described by Shy and Magee.