| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 3039430 | Clinical Neurology and Neurosurgery | 2016 | 5 Pages |
Abstract
In this study, we identified a limb-girdle CMS (LG-CMS) patient carrying two novel heterozygous missense mutations in MUSK gene. CMS related genes should be analyzed in patients with limb-girdle weakness, normal CK, decrement of CMAP at RNS and mild change in muscle biopsy or MRI.
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Authors
Xinghua Luan, Wotu Tian, Li Cao,