Autosomal dominant distal hereditary motor neuropathy type II: a Korean family without sequence variation in HSPB1 and HSPB8
- Author:
Sang-Soo Lee
;
So-Young Moon
;
Ji-Seon Kim
;
Chang-Seok Ki
- Publication Type:Journal Article
- From:Neurology Asia
2012;17(3):235-237
- CountryMalaysia
- Language:English
-
Abstract:
Distal hereditary motor neuropathy (dHMN) is a heterogeneous group of disorders characterized by
weakness and wasting of distal limb muscles without overt sensory abnormalities. Recently, autosomal
dominant dHMN has been mapped to chromosome 12q24 and 7q11-q21. We present a family with
autosomal dominant adult onset dHMN type II consisting of fi ve affected individuals spanning three
generations. They developed mild symmetrical distal lower limb weakness, muscle wasting, and severe
foot deformity after the third decade. Genetic analysis showed no support for linkage to chromosome
12q24 and 7q11-q21 in our family. These fi ndings further demonstrate a genetic heterogeneity within
dHMN type II.
- Full text:P020150710491283153773.pdf
