恶性高热与中央轴空病：两个临床表现异质性家系的分析

Malignant hyperthermia and central core disease: analysis of two families with heterogeneous clinical expression.

作者信息

Romero N B, Nivoche Y, Lunardi J, Bruneau B, Cheval M A, Hillaire D, Fardeau M

机构信息

Laboratoire de Pathologie Musculaire, Hôpital Robert Debré, Paris, France.

出版信息

Neuromuscul Disord. 1993 Sep-Nov;3(5-6):547-51. doi: 10.1016/0960-8966(93)90113-x.

DOI:10.1016/0960-8966(93)90113-x

PMID:8186709

Abstract

We report two families both presenting with malignant hyperthermia susceptibility and "core" or "core-like" changes in the muscle tissue. Combined analysis of the malignant hyperthermia phenotype and the histochemical findings demonstrates the complexity of their association and highly suggests genetic heterogeneity of malignant hyperthermia and central core diseases.

摘要

我们报告了两个家族，均表现出恶性高热易感性以及肌肉组织中的“核心”或“类核心”改变。对恶性高热表型和组织化学结果的联合分析显示了它们之间关联的复杂性，并强烈提示恶性高热和中央轴空病存在遗传异质性。