Limb Girdle Weakness Responding to Salbutamol: An Indian Family with DOK7 Mutation.
Indian Pediatr
;
2015 Mar; 52(3): 243-244
Article
Dans Anglais
| IMSEAR
| ID: sea-171190
ABSTRACT
Background:
Congenital Myasthenic Syndromes (CMS) are heterogeneous genetic diseases. Case characteristics Two siblings presented with progressive limb girdle weakness without significant fluctuations or ocular muscle weakness. Repetitive nerve stimulation showed a decremental response and there was no response to pyridostigmine therapy.Outcome:
A trial of salbutamol produced a remarkable, consistent improvement. Mutation in exon 5 of the DOK7 gene was found in both siblings. Message Patients with congenital myasthenic syndrome with DOK 7 mutation benefit remarkably with salbutamol.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
langue:
Anglais
Texte intégral:
Indian Pediatr
Année:
2015
Type:
Article
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