A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5.
Maselli RA, Arredondo J, Vázquez J, Chong JX, Bamshad MJ, Nickerson DA, Lara M, Ng F, Lo VL, Pytel P, McDonald CM.
Maselli RA, et al. Among authors: arredondo j.
Ann N Y Acad Sci. 2018 Feb;1413(1):119-125. doi: 10.1111/nyas.13585. Epub 2018 Jan 28.
Ann N Y Acad Sci. 2018.
PMID: 29377152
Free PMC article.
Review.