AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH NEUROPATHY

被引：0

作者：

Espinos, Carmen ^{[1
]}

Calpena, Eduardo ^{[1
,2
]}

Martinez-Rubio, Dolores ^{[1
,2
]}

Lupo, Vincenzo ^{[1
,2
]}

机构：

[1] CIBERER, Unit 732, Valencia, Spain

[2] CSIC, IBV, Unit Genet & Mol Med, Valencia, Spain

来源：

NEURODEGENERATIVE DISEASES | 2012年 / 724卷

关键词：

CONGENITAL HYPOMYELINATING NEUROPATHY; DIFFERENTIATION-ASSOCIATED PROTEIN-1; MYOTUBULARIN-RELATED PROTEIN-2; PERIPHERAL NERVOUS-SYSTEM; ONSET AXONAL NEUROPATHY; DISEASE TYPE 4C; SENSORY NEUROPATHY; HEREDITARY MOTOR; GDAP1; GENE; DEMYELINATING NEUROPATHY;

D O I：

暂无

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

Charcot-Marie-Tooth (CMT) disease, a hereditary motor and sensory neuropathy that comprises a complex goup of more than 50 diseases, is the most common inherited neuropathy. CMT is generally divided into demyelinating forms, axonal forms and intermediate forms. CMT is also characterized by a wide genetic heterogeneity with 29 genes and more than 30 loci involved. The most common pattern of inheritance is autosomal dominant (AD), although autosomal recessive (AR) forms are more frequent in Mediterranean countries. In this chapter we give an overview of the associated genes, mechanisms and epidemiology of AR-CMT forms and their associated phenotypes.

引用

页码：61 / 75

页数：15

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