Patient 20, a 57 years old male, presents compound mutations in lysyl oxidase-like 3 (LOXL3), involved in myofiber extracellular matrix development by improving integrin signaling through fibronectin oxidation and interaction with laminins70, and perlecan (HSPG2)71, a protein present on skeletal muscle basal lamina72,73, whose deficiency leads to muscular hypertrophy74, that is also mutated in Schwartz-Jampel syndrome75, Dyssegmental dysplasia Silverman-Handmaker type (DDSH)76 and fibrosis77, such as Patient 19, a 62 years old female. Here, HSPG2 is linked to Silverman-Handmaker type dyssegmental dysplasia.