A spontaneous missense mutation in the chromodomain helicase DNA‐binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome
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DOI: 10.1111/nan.12617
Abstract: Congenital myasthenic syndromes (CMS) are characterized by muscle weakness, ptosis and episodic apnoea. Mutations affect integral protein components of the neuromuscular junction (NMJ). Here we searched for the genetic basis of CMS in female monozygotic… read more here.
Keywords: protein; spontaneous missense; congenital myasthenic; mutation chromodomain ... See more keywords