Cystinuria with congenital myotonic dystrophy.
Two brothers with congenital myotonic dystrophy also had cystinuria with large renal stones. This report is the first to document the concurrence of cystinuria and congenital myotonic dystrophy. It is uncertain whether these two conditions are coincidental or share a common pathogenesis.
D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003555:Cystinuria / Q000235:genetics*; D005500:Follow-Up Studies; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D007669:Kidney Calculi / Q000235:genetics; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics; D009136:Muscular Dystrophies / Q000235:genetics*