Caricamento...
Novel MPZ mutations and congenital hypomyelinating neuropathy
We report two new MPZ mutations causing congenital hypomyelinating neuropathies; c.368_382delGCACGTTCACTTGTG (in-frame deletion of five amino acids) and c.392A>G, Asn131Ser. Each child had clinical and electrodiagnostic features consistent with an inherited neuropathy, confirmed by sural nerve bi...
Salvato in:
| Autori principali: | , , , , , , |
|---|---|
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2010
|
| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2952650/ https://ncbi.nlm.nih.gov/pubmed/20621479 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2010.06.004 |
| Tags: |
Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !
|