A carregar...
Teaching NeuroImages: Characteristic phenotype of Ullrich congenital muscular dystrophy
A 21-year-old woman presented with clinically classic signs of Ullrich congenital muscular dystrophy(1) (figure). Genetic testing of collagen VI genes revealed a homozygous mutation c.2329T>C, p.Cys777Arg in the COL6A2 gene, consistent with the clinical diagnosis.
Na minha lista:
| Main Authors: | , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Lippincott Williams & Wilkins
2013
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3775691/ https://ncbi.nlm.nih.gov/pubmed/23940025 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3182a08d13 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|