Renal, ocular, and neuromuscular involvements in patients with CLDN19 mutations.
Faguer
Stanislas
S
Service de Néphrologie et Immunologie Clinique, Centre de Référence des Maladies Rénales Rares, CHU Toulouse, Toulouse Cedex 9, France. stanislas.faguer@inserm.fr
Chauveau
Dominique
D
Cintas
Pascal
P
Tack
Ivan
I
Cointault
Olivier
O
Rostaing
Lionel
L
Vargas-Poussou
Rosa
R
Ribes
David
D
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
C508912:CLDN19 protein, human; D057167:Claudins; D008565:Membrane Proteins