青少年及成人期近端神经源性肌萎缩伴X连锁隐性遗传。一个家系中的Kugelberg-Welander病及其迟发型变异型。 - Suppr

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超能文献

Proximal neurogenic muscular atrophy in adolescence and adulthood with X-linked recessive inheritance. Kugelberg-Welander disease and its variant of late onset in one pedigree.

作者信息

Tsukagoshi H, Shoji H, Furukawa T

出版信息

Neurology. 1970 Dec;20(12):1188-93. doi: 10.1212/wnl.20.12.1188.

DOI:10.1212/wnl.20.12.1188

PMID:5529907

Abstract

摘要

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Proximal neurogenic muscular atrophy in adolescence and adulthood with X-linked recessive inheritance. Kugelberg-Welander disease and its variant of late onset in one pedigree.青少年及成人期近端神经源性肌萎缩伴X连锁隐性遗传。一个家系中的Kugelberg-Welander病及其迟发型变异型。

Neurology. 1970 Dec;20(12):1188-93. doi: 10.1212/wnl.20.12.1188.

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Hereditary motor and sensory polyneuropathy (peroneal muscular atrophy).

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X-linked recessive bulbospinal neuronopathy: a report of ten cases.X连锁隐性延髓脊髓神经元病：10例报告

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X-linked adult form of spinal muscular atrophy.X连锁成人型脊髓性肌萎缩症

J Neurol. 1983;229(3):175-88. doi: 10.1007/BF00313741.

The nosology of the spinal muscular atrophies.脊髓性肌萎缩症的疾病分类学

J Med Genet. 1971 Dec;8(4):481-95. doi: 10.1136/jmg.8.4.481.

Oculopharyngeal involvement in familial neurogenic muscular atrophy.眼咽肌受累于家族性神经源性肌萎缩。

J Neurol Neurosurg Psychiatry. 1973 Feb;36(1):104-11. doi: 10.1136/jnnp.36.1.104.

Becker's x-linked muscular dystrophy. Histological, enzyme-histochemical, and ultrastructural studies of two cases, originally reported by Becker.贝克尔氏X连锁肌营养不良症。对最初由贝克尔报告的两例病例进行的组织学、酶组织化学及超微结构研究。

Acta Neuropathol. 1979 Apr 12;46(1-2):69-77. doi: 10.1007/BF00684807.

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