Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.
Neuromuscul Disord
; 24(1): 31-5, 2014 Jan.
Article
in En
| MEDLINE
| ID: mdl-24183479
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Receptors, Cholinergic
/
Receptor Protein-Tyrosine Kinases
/
Mutation, Missense
/
Myasthenic Syndromes, Congenital
/
Albuterol
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Humans
/
Male
Language:
En
Journal:
Neuromuscul Disord
Journal subject:
NEUROLOGIA
Year:
2014
Document type:
Article
Affiliation country:
Alemania
Country of publication:
Reino Unido