Loading...
SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles
OBJECTIVE: To identify the genetic etiology and characterize the clinicopathologic features of a novel distal myopathy. METHODS: We performed whole-exome sequencing on a family with an autosomal dominant distal myopathy and targeted exome sequencing in 1 patient with sporadic distal myopathy, both w...
Na minha lista:
| Udgivet i: | Neurology |
|---|---|
| Main Authors: | , , , , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Lippincott Williams & Wilkins
2015
|
| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4553032/ https://ncbi.nlm.nih.gov/pubmed/26208961 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000001864 |
| Tags: |
Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!
|