Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A

BACKGROUND: Monogenic defects of synaptic vesicle (SV) homeostasis have been implicated in many neurologic diseases, including autism, epilepsy, and movement disorders. In addition, abnormal vesicle exocytosis has been associated with several endocrine dysfunctions. METHODS: We report an 11 year old...

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Veröffentlicht in:Mol Genet Genomic Med
Hauptverfasser: Maselli, Ricardo A., Vázquez, Jessica, Schrumpf, Leah, Arredondo, Juan, Lara, Marian, Strober, Jonathan B., Pytel, Peter, Wollmann, Robert L., Ferns, Michael
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2018
Schlagworte:
Clinical Reports
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6014458/
https://ncbi.nlm.nih.gov/pubmed/29441694
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.370
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