早发型强直性肌营养不良症。五个家族的临床和实验室检查结果及文献综述 - Suppr

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Early onset myotonic dystrophy. Clinical and laboratory findings in five families and a review of the literature.

作者信息

Watters G V, Williams T W

出版信息

Arch Neurol. 1967 Aug;17(2):137-52. doi: 10.1001/archneur.1967.00470260027003.

DOI:10.1001/archneur.1967.00470260027003

PMID:6028243

Abstract

摘要

相似文献

Early onset myotonic dystrophy. Clinical and laboratory findings in five families and a review of the literature.早发型强直性肌营养不良症。五个家族的临床和实验室检查结果及文献综述

Arch Neurol. 1967 Aug;17(2):137-52. doi: 10.1001/archneur.1967.00470260027003.

Protein, enzyme, and isoenzyme distribution in human serum fractions obtained by ultracentrifugation.

Clin Chim Acta. 1968 May;20(2):173-80. doi: 10.1016/0009-8981(68)90147-2.

[Spinal muscular atrophy combined with myotonic dystrophy].脊髓性肌萎缩症合并强直性肌营养不良症

J Neurol Sci. 1974 Feb;21(2):191-5. doi: 10.1016/0022-510x(74)90070-7.

[Disk electrophoresis study of changes in serum protein fractions in healthy children of various ages].[不同年龄段健康儿童血清蛋白组分变化的圆盘电泳研究]

Nihon Shonika Gakkai Zasshi. 1969 Mar 1;73(3):308-24.

[Various clinical and genetic aspects of atrophic myotony].

Acta Neurol Psychiatr Belg. 1969 Mar;69(3):215-33.

[Genetic counseling in myotonia and muscular dystrophy].[强直性肌营养不良症的遗传咨询]

Internist (Berl). 1978 Aug;19(8):475-81.

[Family myotonic dystrophy with abnormally high levels of serum creatine phosphokinase (CPK)].伴有血清肌酸磷酸激酶（CPK）水平异常升高的家族性强直性肌营养不良症

Rinsho Shinkeigaku. 1977 Apr;17(4):217-23.

Plasma insulin in patients with myotonic dystrophy and their relatives.强直性肌营养不良患者及其亲属的血浆胰岛素水平

Medicine (Baltimore). 1974 Jul;53(4):307-23. doi: 10.1097/00005792-197407000-00004.

Exp Gerontol. 1968 Aug;3(2):159-70. doi: 10.1016/0531-5565(68)90025-9.

[Protein and lipoprotein fractions of the blood serum in therapy of syphilitic patients].[梅毒患者治疗过程中血清的蛋白质和脂蛋白组分]

Vestn Dermatol Venerol. 1969 Aug;43(8):52-5.

引用本文的文献

Risk estimates for neonatal myotonic dystrophy.新生儿型强直性肌营养不良的风险评估。

J Med Genet. 1984 Jun;21(3):186-8.

Cognitive and personality function in myotonic muscular dystrophy.强直性肌营养不良中的认知与人格功能

J Neurol Neurosurg Psychiatry. 1983 Nov;46(11):971-80. doi: 10.1136/jnnp.46.11.971.

Congenital ophthalmoplegia, floppy baby syndrome, myopathy, and aminoaciduria. Report of a family.先天性眼肌麻痹、松软儿综合征、肌病和氨基酸尿症。一家系报告。

J Neurol Neurosurg Psychiatry. 1969 Dec;32(6):495-508. doi: 10.1136/jnnp.32.6.495.

Neuropsychological profile in myotonic dystrophy.强直性肌营养不良的神经心理学概况。

J Neurol. 1990 Jul;237(4):251-6. doi: 10.1007/BF00314629.

Localisation of the myotonic dystrophy locus to 19q13.2-19q13.3 and its relationship to twelve polymorphic loci on 19q.强直性肌营养不良基因座定位于19q13.2 - 19q13.3及其与19q上12个多态性基因座的关系。

Hum Genet. 1991 May;87(1):73-80. doi: 10.1007/BF01213096.

Genetic risks for children of women with myotonic dystrophy.患有强直性肌营养不良症女性的子女所面临的遗传风险。

Am J Hum Genet. 1991 Jun;48(6):1084-91.

Neonatal respiratory failure due to myotonic dystrophy.强直性肌营养不良所致新生儿呼吸衰竭

Arch Dis Child. 1975 Jul;50(7):569-71. doi: 10.1136/adc.50.7.569.

Congenital myotonic dystrophy in Britain. II. Genetic basis.英国的先天性肌强直性营养不良。II. 遗传基础。

Arch Dis Child. 1975 Jul;50(7):514-21. doi: 10.1136/adc.50.7.514.

Congenital myotonic dystrophy in Britain. I. Clinical aspects.英国的先天性肌强直性营养不良。I. 临床方面

Arch Dis Child. 1975 Jul;50(7):505-13. doi: 10.1136/adc.50.7.505.

Early onset myotonic dystrophy in association with polyneuropathy.早发型强直性肌营养不良伴多发性神经病

J Neurol Neurosurg Psychiatry. 1975 Nov;38(11):1136-9. doi: 10.1136/jnnp.38.11.1136.

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