[Congenital myasthenic syndromes; French experience]. / Syndromes myasthéniques congénitaux - L'expérience française.
Bull Acad Natl Med
; 198(2): 257-70; discussion 270-1, 2014 Feb.
Article
em Fr
| MEDLINE
| ID: mdl-26263703
ABSTRACT
Congenital myasthenic syndromes CMS) form a heterogeneous group of genetic diseases characterized by abnormal neuromuscular transmission. The associated muscular weakness is exacerbated by exertion and usually starts during infancy/childhood In 2002 a national Congenital Myasthenic Syndromes Network was created in France, composed of neurologists, neuropediatricians, pathologists, molecular geneticists and neurobiologists. The network has now identified nearly 300 cases of CMS, as well as three new culprit genes. Based on our personal experience and data from the most recent studies, we describe the 18 principal culprit genes so far identified, along with diagnostic pitfalls, the disease course, prognosis and treatment. The underlying genetic defect remains to be identified in nearly half of CMS patients.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndromes Miastênicas Congênitas
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
País/Região como assunto:
Europa
Idioma:
Fr
Revista:
Bull Acad Natl Med
Ano de publicação:
2014
Tipo de documento:
Article