Disease: Congenital myasthenic syndrome with episodic apnea
- A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation
- A spontaneous missense mutation in the chromodomain helicase DNA-binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome
- Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine
- Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations
- Clinical and genetic characteristics of congenital myasthenia syndrome with episodic apnea caused by CHAT gene mutation: a report of 2 cases
- Clinical and Genetic Features of Congenital Myasthenic Syndromes due to CHAT Mutations: Case Report and Literature Review
- Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants
- Compound Heterozygous <em>CHAT</em> Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea
- Compound Heterozygous CHAT Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea
- Congenital Myasthenic Syndrome Caused by a Novel Hemizygous <em>CHAT</em> Mutation
- Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase
- Congenital myasthenic syndrome due to choline acetyltransferase mutations in infants: clinical suspicion and comprehensive electrophysiological assessment are important for early diagnosis
- Congenital myasthenic syndrome due to novel CHAT mutations in an ethnic kadazandusun family
- Congenital myasthenic syndrome with episodic apnea
- Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation
- Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients
- Congenital myasthenic syndromes
- Diagnosis of mitochondrial disorders in children with next generation sequencing
- Familial early infantile myasthenia gravis
- Histochemical findings of and fine structural changes in motor endplates in diseases with neuromuscular transmission abnormalities
- Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
- Mild phenotype of <em>CHAT</em>-associated congenital myasthenic syndrome: case series
- Unexpected dislocation following accurate total hip arthroplasty caused by excessive hip joint laxity during myasthenic crisis: a case report