Miró O, Cebrián M, Laguno M, Pedrol E, Casademont J, Grau J M
Grup d'Investigació Muscular, Servei de Medicina Interna, Hospital Clínic i Provincial, Universitat de Barcelona.
Med Clin (Barc). 1997 May 17;108(19):739-43.
Five cases (three of them from a same family) of multicore myopathy are presented. The age at diagnosis ranged from 4 to 38 years. In 2 cases muscle complaints developed early in childhood while in the remaining 3 cases raised CK serum levels lead to perform a muscle biopsy. Malignant hyperthermia occurred in a young boy among the three affected relatives. Other family members are probably affected, suggesting an autosomal dominant inheritance. In none of the patients progressive disabling myopathy has occurred after a long term follow-up. A review of the bibliography is included, and clinical and evolutive characteristics of this myopathy are commented.
本文报告了5例多核肌病患者(其中3例来自同一个家庭)。确诊时的年龄范围为4至38岁。2例患者在儿童早期出现肌肉症状,其余3例患者因血清肌酸激酶(CK)水平升高而接受了肌肉活检。在3名受影响的亲属中,一名小男孩发生了恶性高热。其他家庭成员可能也受到影响,提示为常染色体显性遗传。经过长期随访,所有患者均未出现进行性致残性肌病。文中还包括了文献综述,并对这种肌病的临床和演变特征进行了评论。