Učitavanje...

Congenital familial myasthenic syndromes: disease and course in an affected dizygotic twin pair

The present report describes clinical variability in an affected dizygotic twin pair. Twin 1 showed classical features of the congenital myasthenic syndromes (CMS), that is, ptosis, dysphonia, asthenia and hypotonia. In twin 2, these clinical signs were less pronounced, but subtle resulting in sever...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Glavni autori: Pavone, Piero, Praticò, Andrea Domenico, Pavone, Vito, Falsaperla, Raffaele
Format: Artigo
Jezik:Inglês
Izdano: BMJ Publishing Group 2013
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3603822/
https://ncbi.nlm.nih.gov/pubmed/23365176
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2012-007651
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!