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Article

DNAJB2 c.184C>T mutation associated with distal hereditary motor neuropathy with rimmed vacuolar myopathy.

Clinical neuropathology - 1 Jan 2000

Liu Meige, Xu Yan, Hong Daojun, Cong Lu, Fan Yangyi, Zhang Jun

Abstract excerpt

Distal hereditary motor neuropathy (dHMN), also known as distal spinal muscular atrophy (dSMA), comprises a group of inherited peripheral neuropathies with great clinical and genetic heterogeneity, mainly characterized by progressive atrophy and weakness of distal muscle without clinical or electrophysiological sensory abnormalities. Next-generation sequencing is widely applied as an effective diagnostic...

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Identifiers

PMID: 35652544
DOI: 10.5414/NP301466

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