In family 1, whole‐exome sequencing results failed to detect any disease associated variants in COL12A1. Because of a strong clinical suspicion for collagen XII‐related myopathy or other similar connective tissue disorder, we also obtained a skin biopsy from P1B and stained the fibroblasts for collagen XII, which demonstrated a complete absence of extracellular fibrillar collagen XII staining and a near complete intracellular staining for collagen XII. The gene discussed is COL12A1; the disease is connective tissue disorder.