中央核性肌病中的肌强直

Myotonia in centronuclear myopathy.

作者信息

Gil-Peralta A, Rafel E, Bautista J, Alberca R

出版信息

J Neurol Neurosurg Psychiatry. 1978 Dec;41(12):1102-8. doi: 10.1136/jnnp.41.12.1102.

DOI:10.1136/jnnp.41.12.1102

PMID:153383

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC493238/

Abstract

Centronuclear myopathy, which is unusual because of clinical myotonia, is described in two sisters. The diagnosis was established in adult life, but the first symptoms were noticed in infancy. The outstanding points of the clinical picture were mild amyotrophy, paresis, and clinical myotonia.

摘要

中央核性肌病在两姐妹中被描述，因其伴有临床性肌强直而不常见。诊断在成年期确立，但最初症状在婴儿期就已出现。临床表现的突出特点是轻度肌萎缩、轻瘫和临床性肌强直。