现已证实一些外周神经系统遗传病有关的基因和突变机制，并且提供了这些疾病分类的初步遗传学原理和其生物学基础。这些研究有几个惊人的发现，包括，两种显著不同的突变机制（重复与点突变）可以在进行性神经性腓骨肌萎缩病１Ａ型中引起类似的临床表型，而相同基因的突变能引起不同临床表型。 A number of genes and mutations related to genetic disorders of the peripheral nervous system have now been demonstrated and provide a preliminary genetic rationale for their classification and their biological basis. Several surprising findings from these studies include that two distinctly different mutational mechanisms (repetitive and point mutations) can cause a similar clinical phenotype in progressive neurofibrillary muscular dystrophy type 1A, while mutations in the same gene Cause different clinical phenotypes.