Abstract
Objective To analyze the clinical, electrophysiological, pathological and genetic features of patients with acetylcholinesterase-associated collagen-like tail subunit gene (COLQ)-related congenital myasthenic syndrome(CMS), and provide references for improving the clinical diagnosis and treatments of this disease. Methods Two patients with CMS, admitted to our hospital in October 2017 and February 2018, were chosen in our study. The clinical data, including clinical history, laboratory examination, and electrophysiological and pathological characteristics, were collected. Next-generation gene sequencing and pedigree validation were performed on the patients to detect the CMS-related genes. Results (1) Patient one was a 10 year-old boy complaining of poor exercise capacity from birth, and he presented with abnormal gait, which developed slowly; patient two was a 30 year-old female whose manifestations were myasthenia of limbs and dyspnea when she was 22. (2) The laboratory examinations showed that muscle enzymes, neostigmine test, and antibodies against myasthenia gravis were normal; electrophysiological examination indicated slight myogenic damage, with decreased response of the low-frequency repetitive nerve stimulation; muscle biopsy showed scattered muscle fiber atrophy. Gene analysis revealed missense mutations in COLQ of two patients; patient one was a compound heterozygous mutations (c.1274T>Cand c.869G>A), and patient two was a homozygous mutation (c.1228C>T); both were missense mutations. Conclusions COLQ-related CMS patients have clinical heterogeneity, with negative blood tests, decrement of low-frequency repetitive nerve stimulation, and scattered muscle fiber atrophy of muscle biopsy. Next-generation gene sequencing can make a definite diagnosis. Key words: Myasthenic syndrome; Electrophysiology; Genetics
Published Version
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