The unfolding landscape of the congenital myasthenic syndromes.
Ann N Y Acad Sci
; 1413(1): 25-34, 2018 02.
Article
en En
| MEDLINE
| ID: mdl-29355968
ABSTRACT
Congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular transmission is impaired by one or more specific mechanisms. Since the advent of next-generation sequencing methods, the discovery of novel CMS targets and phenotypes has proceeded at an accelerated rate. Here, we review the current classification of CMS and describe our findings in five of these targets identified and investigated in our laboratory in the past 5 years. Defects in LRP4 hinder synaptic development and maintenance; the defects in PREPL are predicted to diminish filling of the synaptic vesicle with acetylcholine; and defects in SNAP25, Munc13-1, and synaptotbrevin-1 impede synaptic vesicle exocytosis.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Transmisión Sináptica
/
Síndromes Miasténicos Congénitos
/
Unión Neuromuscular
Tipo de estudio:
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Ann N Y Acad Sci
Año:
2018
Tipo del documento:
Article