一个具有显性遗传的青少年近端脊髓性肌萎缩症家族。
A family of juvenile proximal spinal muscular atrophy with dominant inheritance.
作者信息
Cao A, Cainchetti C, Calisti L, Tangheroni W
出版信息
J Med Genet. 1976 Apr;13(2):131-5. doi: 10.1136/jmg.13.2.131.
Abstract
A family with juvenile proximal spinal muscular atrophy with dominant inheritance and complete penetrance is reported. The disease occurred in three generations and showed high variations in the age of onset and progression among the affected members. A characteristic feature was the constant involvement of facial nuclei.
摘要
报告了一个具有显性遗传和完全外显率的青少年近端脊髓性肌萎缩症家族。该疾病在三代人中出现，且在受影响成员中发病年龄和病情进展存在高度差异。一个特征性表现是面神经核持续受累。
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