HSPB1和HSPB8基因突变在Ⅱ型遗传性运动神经病变中的作用

Brain and neurological disorders Pub Date : 2019-03-28 DOI:10.31579/2642-973x/005

S. Asadi

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摘要

DHMN2的症状通常从10岁开始到成年中期。这种疾病的早期症状包括脚趾肌肉堵塞或无力，然后是整个腿。DHMN2综合征是由于位于7号染色体长臂上的HSPB1基因突变为7q11.23，而位于12号染色体长臂上的HSPB8基因突变为12q24.23引起的。

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The role of genetic mutations in genes HSPB1 & HSPB8 in Distal Hereditary Motor Neuropathy, type II Syndrome

Symptoms of DHMN2 usually begin from the age of 10 to the middle of adulthood. Early signs of this disorder include clogging or weakness in the muscles of the toe and the next, the whole leg. The DHMN2 syndrome is caused by the mutation of the HSPB1 gene, which is positioned in the long arm of chromosome 7 as 7q11.23, and the HSPB8 gene, which is based on the long arm of chromosome 12, is 12q24.23.

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Brain and neurological disorders

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