Dystrophin () Missense Variant in Cats with Becker-Type Muscular Dystrophy.

Muscular dystrophy due to dystrophin deficiency in humans is phenotypically divided into a severe Duchenne and milder Becker type. Dystrophin deficiency has also been described in a few animal species, and few gene variants have been identified in animals. Here, we characterize the clinical, histopathological, and molecular genetic aspects of a family of Maine Coon crossbred cats with clinically mild and slowly progressive muscular dystrophy.

[Cystinuria caused by a SLC7A9 missense mutation in Siamese-crossbred littermates in Germany].

Cystinuria is caused by defective proximal renal tubular reabsorption of the amino acids cystine, ornithine, lysine and arginine (COLA). The low solubility of cystine in mildly acidic urine may lead to the formation of urinary cystine crystals and uroliths. Much progress has been made recently in the diagnosis and understanding of cystinuria in companion animals.