28544784Maselli RA, Arredondo J, Vázquez J, Chong JX, University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Lara M, Ng F, Lo VL, Pytel P, McDonald CMAmerican journal of medical genetics. Part ALaminin; Myasthenic Syndromes, Congenital; Neuromuscular Junction DiseasesAdult; Face; Female; Homozygote; Humans; Myopia; Tics; Young AdultPresynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission. Am J Med Genet A. 2017 Aug; 173(8):2240-2245.Am J Med Genet A2017-05-25T00:00:002017Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.prns:emailEncryptedemail addressprns:fullNamefull nameprns:hasAuthorListauthor listprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:hasSubjectAreaMajorTopicListhas major subject area listprns:hasSubjectAreaMinorTopicListhas minor subject area listprns:informationResourceReferenceinformation resource referenceprns:isPrimaryPositionis primary positionprns:latitudelatitudeprns:longitudelongitudeprns:mainImagephotoprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns:minWeightminimum weightprns:numberOfAuthorsnumber of authorsprns:numberOfConnectionsnumber of connectionsprns:numberOfPublicationsnumber of publicationsprns:personIdPerson IDprns:personInPrimaryPositionperson in primary positionprns:positionInDepartmentposition in departmentprns:predicateNodepredicate nodeprns:publicationDatepublication dateprns:sortOrdersort orderprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed Identifiervivo:authorRankauthor rank in publicationAuthorshipDepartmentvivo:hasSubjectAreahas subject areavivo:hrJobTitleHR job titleInformation Resourcevivo:informationResourceInAuthorshipauthorsvivo:linkedAuthorlinked authorvivo:linkedInformationResourcelinked information resourcePositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titlerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPersonD000328Living Beings1578255770.254454AdultAuthorship 104605100.1555590.1555591authors10.2511has subject areaD006720Living Beings952000.950718HomozygoteD005145Anatomy721140.922589FaceD007797Chemicals & Drugs43850.957703LamininD005260Physiology1992444050.191184FemaleD006801Living Beings2262862810.130064HumansD009216Disorders8100.992578MyopiaD020511Disorders330.998409Neuromuscular Junction DiseasesD020294Disorders4350.964442Myasthenic Syndromes, CongenitalD020323Disorders440.99622TicsD055815Living Beings97159610.42324Young AdultPathologyUniversity of ChicagoPeterPytelx3JwH6QZOfnamXNnYUHhvWD+6g==Peter Pytel41.78927490000000-87.601250000000001091Pytel, PeterProfessortrue1ProfessorProfessor