A carregar...
Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features
We identified the known c.1_9del mutation in the PLEC gene in four unrelated females from consanguineous families of Turkish origin. All individuals presented with slowly progressive limb-girdle weakness without any dermatological findings, and dystrophic changes observed in their muscle biopsies. A...
Na minha lista:
| Publicado no: | Genes (Basel) |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2020
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7397187/ https://ncbi.nlm.nih.gov/pubmed/32605089 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11070716 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|