Yoshioka R, Dyck P J, Chance P F
Division of Neurology, The Children's Hospital of Philadelphia, Pennsylvania 19104, USA.
Neurology. 1996 Feb;46(2):569-71. doi: 10.1212/wnl.46.2.569.
Charcot-Marie-Tooth neuropathy type 2 (CMT2) is a common inherited axonal neuropathy. The locus for one form of CMT2 (CMT2A) is assigned to the short arm of chromosome 1. There is genetic heterogeneity in CMT2 because additional pedigrees do not demonstrate linkage to chromosome 1 and are designated as CMT2B. Further clinical heterogeneity is suggested by CMT2 pedigrees with diaphragm and vocal cord weakness and are designated as CMT2C. To address the possible genetic distinction between CMT2A and CMT2C, we tested markers from the CMT2A locus for linkage in a large CMT2C pedigree. There was no evidence to support linkage of the CMT2C gene to the region of the CMT2A locus on chromosome 1. CMT2C is not an allelic variant of CMT2A. This analysis provides further evidence for genetic heterogeneity within inherited axonal neuropathies.
2型夏科-马里-图斯神经病（CMT2）是一种常见的遗传性轴索性神经病。一种形式的CMT2（CMT2A）的基因座定位于1号染色体短臂。CMT2存在遗传异质性，因为其他家系未显示与1号染色体连锁，被指定为CMT2B。伴有膈肌和声带无力的CMT2家系提示存在进一步的临床异质性，被指定为CMT2C。为了探讨CMT2A和CMT2C之间可能的遗传差异，我们在一个大型CMT2C家系中检测了来自CMT2A基因座的标记物以寻找连锁关系。没有证据支持CMT2C基因与1号染色体上CMT2A基因座区域连锁。CMT2C不是CMT2A的等位基因变体。该分析为遗传性轴索性神经病的遗传异质性提供了进一步证据。
