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Article

COLQ-Related Congenital Myasthenic Syndrome and Response to Salbutamol Therapy.

Journal of clinical neuromuscular disease - 1 Mar 2017

Padmanabha Hansashree, Saini Arushi G, Sankhyan Naveen, Singhi Pratibha

Abstract excerpt

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Topics

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Share to Acetylcholinesterase
Share to Adrenergic beta-2 Receptor Agonists
Share to Albuterol
Share to Collagen

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscle Proteins

Share to Myasthenic Syndromes, Congenital

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Source

Identifiers

PMID: 28221310
DOI: 10.1097/CND.0000000000000160

Genes

COLQ

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

COLQ-Related Congenital Myasthenic Syndrome and Response to Salbutamol Therapy.PMID 28221310Read ↗

COLQ-Related Congenital Myasthenic Syndrome in a Child from Western India.Semantic proximity Read ↗

DOK7 congenital myasthenic syndrome responsive to oral salbutamol.Semantic proximity Read ↗

COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum.Semantic proximity Read ↗

Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature.Semantic proximity Read ↗

Intra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations.Semantic proximity Read ↗

Congenital myasthenia syndrome with demyelinating sensorimotor neuropathy responsive to salbutamol monotherapy: a novel clinical phenotype of CHRNE mutation.Semantic proximity Read ↗

A rare mutation in the COLQ gene causing congenital myasthenic syndrome with remarkable improvement to fluoxetine: A case report.Semantic proximity Read ↗

Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors.Semantic proximity Read ↗

Recurrent COLQ mutation in congenital myasthenic syndrome.Semantic proximity Read ↗

Severe scoliosis in a patient with COLQ mutation and congenital myasthenic syndrome: a clue for diagnosis.Semantic proximity Read ↗

[Congenital myasthenic syndrome with COLQ gene mutation: report of a case].Semantic proximity Read ↗

Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation.Semantic proximity Read ↗

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