A spontaneous missense mutation in the chromodomain helicase DNA binding protein 8 (CHD8 ) gene: a novel association with congenital myasthenic syndrome,Neuropathology and Applied Neurobiology

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A spontaneous missense mutation in the chromodomain helicase DNA binding protein 8 (CHD8 ) gene: a novel association with congenital myasthenic syndrome
Neuropathology and Applied Neurobiology ( IF 5 ) Pub Date : 2020-05-07 , DOI: 10.1111/nan.12617
C Y Lee _{1,

2} , M Petkova _{1,

2} , S Morales-Gonzalez _{1,

2} , N Gimber ₃ , J Schmoranzer ₃ , A Meisel ₄ , W Böhmerle ₄ , W Stenzel ₅ , M Schuelke _{1,

2} , J M Schwarz _{1,

2}

Affiliation

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.

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