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… Click to show full 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 twins.
Keywords:
protein;
spontaneous missense;
congenital myasthenic;
mutation chromodomain;
missense mutation;
chromodomain helicase
Journal Title: Neuropathology and Applied Neurobiology
Year Published: 2020
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Journal Title: Neuropathology and Applied Neurobiology
Year Published: 2020
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!