Avancées récentes dans les SMC

Rubrique ouverte à tous en lecture seule.
POUR ACCEDER AUX NOMBREUX AUTRES FORUMS IL EST NECESSAIRE DE S'INSCRIRE (fonction M'enregistrer en haut à droite de l'écran).
Répondre
Avatar de l’utilisateur

Auteur du sujet
Pboulanger
Administrateur
Administrateur
Messages : 4692
Inscription : 02 févr. 2010 18:41
Localisation : La Chapelle en Serval F-60520
    Windows 8.1 Firefox
Genre :
Résidence : France
Zodiaque : Lion
Âge : 60
Contact :

Avancées récentes dans les SMC

Message par Pboulanger » 18 juil. 2016 11:46

:hi:

Lu sur http://onlinelibrary.wiley.com/doi/10.1 ... avedsearch


Traduction disponible directement en cliquant en bas à droite de ce message sur notre forum
Image
Recent advances in congenital myasthenic syndromes

Kinji Ohno*, Bisei Ohkawara andMikako Ito
Version of Record online: 15 JUL 2016
DOI: 10.1111/cen3.12316


Abstract


Congenital myasthenic syndromes (CMS) are heterogeneous disorders caused by germline mutations in genes expressed at the neuromuscular junction.

Mutations have been identified in 24 genes encoding acetylcholine receptor subunits (CHRNA1, CHRNB1, CHRND, CHRNE and CHRNG), skeletal muscle sodium channel (SCN4A), signaling molecules driving acetylcholine receptor subunits clustering (AGRN, LRP4, MUSK and DOK7), synaptic structural proteins (COLQ, LAMB2 and COL13A1), postsynaptic structural proteins (RAPSN and PLEC), presynaptic molecules (CHAT, SYT2), glycosylation enzymes (GFPT1, DPAGT1, ALG2, ALG14 and GMPPB), and other less characterized molecules (PREPL and SCL25A1).

CMS are recessive disorders, except for slow channel CMS and synaptotagmin 2 (SYT2)-CMS. Onsets are largely less than 2 years, but adult-onset is not rare, especially in slow-channel CMS and limb-girdle type CMS caused by glycosylation defects and by DOK7 mutations.

Clinical features include fatigable muscle weakness, amyotrophy and minor facial anomalies. Eye, facial and bulbar muscles are frequently affected, but sparing of these muscles is observed, especially in limb-girdle type CMS.

Serum creatine kinase levels are frequently elevated in slow-channel CMS, glutamine-fructose-6-phosphate aminotransferase 1 (GFPT1)-CMS, and guanosine diphosphate mannose pyrophosphorylase B (GMPPB)-CMS.

Electrophysiological findings supporting compromised neuromuscular signal transmission are a prerequisite for diagnosing CMS. Most CMS patients are likely to be underdiagnosed, and recognition of CMS in undiagnosed muscle weakness and/or amyotrophy is critical for diagnosing CMS.
Amicalement,
Image

Répondre

Revenir vers « Informations »

Qui est en ligne ?

Utilisateurs parcourant ce forum : Aucun utilisateur inscrit et 0 invité