Figure 1.

(a–c) Clinical images of affected cat #1, with muscle hypertrophy and protrusion of the tongue tip; (video in supplementary materials), (d) Pedigree of Maine Coon crossbred domestic cat family with muscular dystrophy. The affected males are depicted as black squares; clinically unaffected males are shown as empty symbols. The unaffected female littermate cat #4 and queen cat #5 were heterozygous for the mutant allele (C/T); symbols with black dots indicate carrier status for an X-linked trait. Genotypes for the DMD:c.4186C>T variant are indicated; the “Y” indicates the hemizygous genotype in males with either a mutant or wildtype X-chromosomal allele. The queen’s mother was a Maine Coon cat but not available for study. The litter’s tom was also not available for clinical examination and genotyping.