A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5

We report a severe defect of neuromuscular transmission in a consanguineous patient with a homozygous variant in the laminin α5 subunit gene (LAMA5). The variant c.8046C>T (p.Arg2659Trp) is rare and has a predicted deleterious effect. The affected individual, who also carries a rare homozygous se...

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Bibliographic Details
Published in:Ann N Y Acad Sci
Main Authors: Maselli, Ricardo A., Arredondo, Juan, Vázquez, Jessica, Chong, Jessica X., Bamshad, Michael J., Nickerson, Deborah A., Lara, Marian, Ng, Fiona, Lee Lo, Victoria, Pytel, Peter, McDonald, Craig M.
Format: Artigo
Language:Inglês
Published: 2018
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6252105/
https://ncbi.nlm.nih.gov/pubmed/29377152
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/nyas.13585
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