The proband B carrying a novel deletion mutation in EMD presented mild skeletal disorder. (A) Sanger sequence of codons 8-15 in exon 1 of EMD in a wild-type subject and proband B confirms the 14-bp deletion mutation (c.26_39delATACCGAGCTGACC). (B) A mild atrophy was observed in the proband B’s bicep and tricep muscles on the arm, no contraction had been detected in his elbows and Achilles tendons, and his calf muscles were surprisingly strong. (C) Hematoxylin-eosin staining of deltoid biopsy from proband B showed clear cross striation and normal myofilament fibers. Internally located nuclei and fiber splitting were found. Endomysial fibrosis and sarcoplasmic condensation were occasionally noted.