DOK7 congenital myasthenic syndrome responsive to oral salbutamol

QJM. 2022 May 10;115(5):323-324. doi: 10.1093/qjmed/hcac017.

Authors

K Tayade¹, M Salunkhe¹, A Agarwal¹, D M Radhakrishnan¹, A K Srivastava¹

Affiliation

¹ From the Department of Neurology, Cardioneurosciences Centre, All India Institute of Medical Sciences, New Delhi, India.

PMID: 35092298
DOI: 10.1093/qjmed/hcac017

No abstract available

MeSH terms

Albuterol / therapeutic use
Humans
Muscle Proteins / genetics
Mutation
Myasthenic Syndromes, Congenital* / diagnosis
Myasthenic Syndromes, Congenital* / drug therapy
Myasthenic Syndromes, Congenital* / genetics

Substances

DOK7 protein, human
Muscle Proteins
Albuterol