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Limb Girdle Weakness Responding to Salbutamol: An Indian Family with DOK7 Mutation.
Indian Pediatr ; 2015 Mar; 52(3): 243-244
Artigo em Inglês | 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.

Texto completo: DisponíveL Índice: IMSEAR (Sudeste Asiático) Idioma: Inglês Revista: Indian Pediatr Ano de publicação: 2015 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: IMSEAR (Sudeste Asiático) Idioma: Inglês Revista: Indian Pediatr Ano de publicação: 2015 Tipo de documento: Artigo