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[一例伴有肌痛的贝克尔型先天性肌强直病例]

[A case of Becker type congenital myotonia with myalgia].

作者信息

Yonekura J, Yazaki S, Takahashi Y, Someya K, Tadokoro M

出版信息

Rinsho Shinkeigaku. 1989 Sep;29(9):1140-3.

PMID:2598540
Abstract

We reported a case of Becker type congenital myotonia with myalgia. A 28 year-old woman admitted to our hospital because of right anterior chest pain and back pain. She was diagnosed as myotonic dystrophy by other university hospital when she was 16 years old. Physical examination revealed only myotonia and could not find muscle atrophy or cataracta which were usually found in myotonic dystrophy. The quadriceps muscle biopsy revealed complete absence of type IIB muscle fiber. We diagnosed her Becker type congenital myotonia by the clinical course and family history and the histopathological findings of quadriceps muscle. Myalgia which she complained seemed to have some connection with this disease. But we could not prove the pathogenesis of this myalgia.

摘要

我们报告了一例伴有肌痛的贝克尔型先天性肌强直病例。一名28岁女性因右前胸疼痛和背痛入住我院。她16岁时被其他大学医院诊断为强直性肌营养不良。体格检查仅发现肌强直,未发现强直性肌营养不良常见的肌肉萎缩或白内障。股四头肌活检显示完全缺乏IIB型肌纤维。根据临床病程、家族史以及股四头肌的组织病理学检查结果,我们诊断她为贝克尔型先天性肌强直。她所抱怨的肌痛似乎与这种疾病有某种关联。但我们无法证实这种肌痛的发病机制。

相似文献

1
[A case of Becker type congenital myotonia with myalgia].[一例伴有肌痛的贝克尔型先天性肌强直病例]
Rinsho Shinkeigaku. 1989 Sep;29(9):1140-3.
2
[Familial case of myotonia with muscular hypertrophy, weakness corrected by effort and atrophy of type II fibers].[伴有肌肉肥大的肌强直家族病例,运动可改善肌无力,Ⅱ型纤维萎缩]
Rev Neurol (Paris). 1975 Apr;131(4):285-92.
3
[A 63-year-old woman with muscle weakness, myotonia, and parkinsonism].一名患有肌无力、肌强直和帕金森症的63岁女性。
No To Shinkei. 1996 Mar;48(3):287-97.
4
Case-of-the-month: autosomal recessive myotonia congenita: marked muscle weakness in a 16-year-old boy.本月病例:常染色体隐性遗传性先天性肌强直:一名16岁男孩出现明显肌肉无力
Muscle Nerve. 1992 Jan;15(1):111-3. doi: 10.1002/mus.880150119.
5
Normal muscle spindle morphology in myotonia congenita: the spindle abnormality in myotonic dystrophy is not due to myotonia alone.先天性肌强直中正常的肌梭形态:强直性肌营养不良中的肌梭异常并非仅由肌强直所致。
Clin Neuropathol. 1983;2(2):75-8.
6
[A case of myotonic dystrophy showing proximal dominant muscle involvement but not myotonia].1例强直性肌营养不良症表现为近端肌肉为主受累但无肌强直
Rinsho Shinkeigaku. 1999 Apr;39(4):461-4.
7
[A 34-year-old woman with delayed motor milestones, high arched palate, and proximal muscle weakness].一名34岁女性,有运动发育迟缓、高腭弓和近端肌无力症状。
No To Shinkei. 1996 Jul;48(7):677-84.
8
[Myotonia congenital (Thomsen) and recessive generalized myotonia (Becker)].先天性肌强直(汤姆森型)和隐性全身性肌强直(贝克尔型)
Nervenarzt. 1993 Dec;64(12):766-9.
9
[True muscle hypertrophy of the unilateral calf in congenital myotonic dystrophy--a case report].[先天性肌强直性营养不良单侧小腿真性肌肉肥大——病例报告]
Rinsho Shinkeigaku. 1993 Oct;33(10):1100-2.
10
Abnormalities of the fast sodium current in myotonic dystrophy, recessive generalized myotonia, and adynamia episodica.强直性肌营养不良、隐性全身性肌强直和发作性肌无力中快速钠电流的异常。
Muscle Nerve. 1989 Apr;12(4):281-7. doi: 10.1002/mus.880120405.

引用本文的文献

1
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.