A new genetic variant of the spinal muscular atrophies in infancy.
作者信息
Zellweger H, Hanhart E, Schneider H J
出版信息
J Med Genet. 1972 Dec;9(4):401-7. doi: 10.1136/jmg.9.4.401.
Abstract
摘要
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A new genetic variant of the spinal muscular atrophies in infancy.婴儿期脊髓性肌萎缩症的一种新的基因变异体。
J Med Genet. 1972 Dec;9(4):401-7. doi: 10.1136/jmg.9.4.401.
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Hereditary distal spinal muscular atrophy with vocal cord paralysis.遗传性远端脊髓性肌萎缩伴声带麻痹
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Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome?糖尿病、尿崩症和视神经萎缩。一种常染色体隐性综合征？
J Med Genet. 1977 Jun;14(3):190-3. doi: 10.1136/jmg.14.3.190.
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Nephrogenic diabetes insipidus and Werdnig-Hoffmann disease in a child: an unusual association.一名儿童患肾性尿崩症与韦尼克-霍夫曼病：一种罕见的关联。
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本文引用的文献
1
[Late manifestations with protracted course in Werdnig-Hoffmann's spinal muscular atrophy (with familial aspects)].
Nervenarzt. 1962 Oct;33:442-6.
2
Heredofamilial juvenile muscular atrophy simulating muscular dystrophy.遗传性家族性青少年型肌肉萎缩症，类似肌营养不良症。
AMA Arch Neurol Psychiatry. 1956 May;75(5):500-9. doi: 10.1001/archneurpsyc.1956.02330230050005.
3
Hereditary proximal spinal muscular atrophy, a clinical entity simulating progressive muscular dystrophy.遗传性近端脊髓性肌萎缩症，一种类似进行性肌营养不良的临床病症。
Acta Psychiatr Neurol Scand. 1955;30(1-2):395-406.
4
[Forty cases of Werdnig-Hoffmann disease with eleven anatomical examinations].[40例婴儿进行性脊髓性肌萎缩症的11次解剖检查]
Rev Neurol (Paris). 1955 Oct;93(4):621-44.
5
A new genetic variant of spinal muscular atrophy.
Neurology. 1969 Sep;19(9):865-9. doi: 10.1212/wnl.19.9.865.
6
Heritable spinal muscular atrophies.遗传性脊髓性肌萎缩症
Helv Paediatr Acta. 1969 Feb;24(1):92-105.
7
The genetic heterogeneity of spinal muscular atrophy (SMA).
Birth Defects Orig Artic Ser. 1971 Feb;7(2):82-9.
8
An unusual inheritane pattern for spinal muscular atrophy.脊髓性肌萎缩症的一种不寻常遗传模式。
Dev Med Child Neurol. 1971 Oct;13(5):621-4. doi: 10.1111/j.1469-8749.1971.tb08326.x.
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