Articles with "diagnosis cms" as a keyword



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Congenital myasthenic syndromes in the Thai population: Clinical findings and novel mutations

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Published in 2020 at "Neuromuscular Disorders"

DOI: 10.1016/j.nmd.2020.08.362

Abstract: Congenital myasthenic syndromes (CMS) comprise a heterogeneous group of genetic disorders of the neuromuscular junction. Next generation sequencing has been increasingly used for molecular diagnosis in CMS patients. This study aimed to identify the disease-causing… read more here.

Keywords: syndromes thai; diagnosis cms; thai population; congenital myasthenic ... See more keywords