title: Renal, ocular, and neuromuscular involvements in patients with CLDN19 mutations.
authors.affiliation: Service de Néphrologie et Immunologie Clinique, Centre de Référence des Maladies Rénales Rares, CHU Toulouse, Toulouse Cedex 9, France. stanislas.faguer@inserm.fr
authors.forename: Stanislas
authors.initials: S
authors.lastname: Faguer
authors.forename: Dominique
authors.initials: D
authors.lastname: Chauveau
authors.forename: Pascal
authors.initials: P
authors.lastname: Cintas
authors.forename: Ivan
authors.initials: I
authors.lastname: Tack
authors.forename: Olivier
authors.initials: O
authors.lastname: Cointault
authors.forename: Lionel
authors.initials: L
authors.lastname: Rostaing
authors.forename: Rosa
authors.initials: R
authors.lastname: Vargas-Poussou
authors.forename: David
authors.initials: D
authors.lastname: Ribes
mesh_terms: D000293:Adolescent; D057167:Claudins; D004252:DNA Mutational Analysis; D018450:Disease Progression; D004576:Electromyography; D017079:Exercise Tolerance; D005128:Eye Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D005260:Female; D005602:France; D020022:Genetic Predisposition to Disease; D005919:Glomerular Filtration Rate; D006801:Humans; D007223:Infant; D007676:Kidney Failure, Chronic / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D008275:Magnesium Deficiency / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D008565:Membrane Proteins / Q000235:genetics*; D053580:Muscle Strength; D009154:Mutation; D009397:Nephrocalcinosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D009468:Neuromuscular Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D010641:Phenotype; D012189:Retrospective Studies; D013997:Time Factors; D014787:Vision Tests; D014785:Vision, Ocular; D055815:Young Adult
chemical_list: C508912:CLDN19 protein, human; D057167:Claudins; D008565:Membrane Proteins