A spontaneous missense mutation in the chromodomain helicase DNA-binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome.
Lee, C Y
A spontaneous missense mutation in the chromodomain helicase DNA-binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome. [electronic resource] - Neuropathology and applied neurobiology 10 2020 - 588-601 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Twin Study
1365-2990
10.1111/nan.12617 doi
Adolescent
DNA-Binding Proteins--genetics
Female
Humans
Immunohistochemistry
Muscle Proteins--genetics
Mutation, Missense--genetics
Myasthenic Syndromes, Congenital--genetics
Neuromuscular Junction--pathology
Transcription Factors--genetics
Twins, Monozygotic
Exome Sequencing
A spontaneous missense mutation in the chromodomain helicase DNA-binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome. [electronic resource] - Neuropathology and applied neurobiology 10 2020 - 588-601 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Twin Study
1365-2990
10.1111/nan.12617 doi
Adolescent
DNA-Binding Proteins--genetics
Female
Humans
Immunohistochemistry
Muscle Proteins--genetics
Mutation, Missense--genetics
Myasthenic Syndromes, Congenital--genetics
Neuromuscular Junction--pathology
Transcription Factors--genetics
Twins, Monozygotic
Exome Sequencing