A carregar...
Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation
Centronuclear myopathy (CNM) is a rare hereditary congenital myopathy characterized by muscular hypotonia and abnormal centralization of nuclei in muscle fibers. The autosomal recessive (AR) form presents from birth to childhood, followed by a mild progression of muscle weakness. Despite recently id...
Na minha lista:
| Main Authors: | , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Pacini Editore SpA
2009
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2858945/ https://ncbi.nlm.nih.gov/pubmed/20476667 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|