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常染色体隐性遗传性全身性肌强直

Autosomal recessive generalized myotonia.

作者信息

Sun S F, Streib E W

出版信息

Muscle Nerve. 1983 Feb;6(2):143-8. doi: 10.1002/mus.880060210.

DOI:10.1002/mus.880060210
PMID:6855798
Abstract

Two siblings and a first degree cousin of a consanguinous marriage were afflicted with recessive generalized myotonia (RGMy). All had muscle weakness which was particularly prominent after rest, thinning of the forearms, weakness of anterior compartment muscles, and muscular contractures. The first degree cousin was the most severely afflicted with congenital myotonia. Muscle biopsy and electromyography were consistent with a myopathy. Exercise after rest demonstrated a marked reduction in muscle membrane excitability in all patients.

摘要

两名患有隐性全身性肌强直(RGMy)的近亲结婚的兄弟姐妹及其一级堂亲均患有此病。他们都有肌肉无力的症状,休息后尤为明显,前臂变细,前室肌肉无力,还有肌肉挛缩。这位一级堂亲先天性肌强直症状最为严重。肌肉活检和肌电图检查结果与肌病相符。所有患者休息后运动均显示肌肉膜兴奋性显著降低。

相似文献

1
Autosomal recessive generalized myotonia.常染色体隐性遗传性全身性肌强直
Muscle Nerve. 1983 Feb;6(2):143-8. doi: 10.1002/mus.880060210.
2
Autosomal recessive generalized myotonia.常染色体隐性全身性肌强直
Muscle Nerve. 1980 Mar-Apr;3(2):176-80. doi: 10.1002/mus.880030212.
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The autosomal recessive (Becker) form of myotonia congenita.常染色体隐性(贝克尔)型先天性肌强直。
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[Cardiological studies on patients with autosomal dominant and autosomal recessive hereditary myotonia congenital and myotonia dystrophica].[关于常染色体显性和常染色体隐性遗传性先天性肌强直及营养不良性肌强直患者的心脏病学研究]
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引用本文的文献

1
Investigation of muscle disease.肌肉疾病的调查
J Neurol Neurosurg Psychiatry. 1996 Mar;60(3):256-74. doi: 10.1136/jnnp.60.3.256.
2
Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker).常染色体隐性全身性肌强直(贝克尔型)基因同质性的证据。
J Med Genet. 1993 Nov;30(11):914-7. doi: 10.1136/jmg.30.11.914.
3
Repetitive nerve stimulation in the differential diagnosis of congenital myotonia.重复神经刺激在先天性肌强直鉴别诊断中的应用
Ital J Neurol Sci. 1984 Dec;5(4):385-90. doi: 10.1007/BF02042621.