Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission

Defects in genes encoding the isoforms of the laminin alpha subunit have been linked to various phenotypic manifestations, including brain malformations, muscular dystrophy, ocular defects, cardiomyopathy, and skin abnormalities. We report here a severe defect of neuromuscular transmission in a cons...

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Vydáno v:Am J Med Genet A
Hlavní autoři: Maselli, Ricardo A., Arredondo, Juan, Vázquez, Jessica, Chong, Jessica X., Bamshad, Michael J., Nickerson, Deborah A., Lara, Marian, Ng, Fiona, Lo, Victoria L., Pytel, Peter, McDonald, Craig M.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2017
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5541137/
https://ncbi.nlm.nih.gov/pubmed/28544784
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38291
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