muscle tissue, skeletal muscle as well as cardiac muscle, is commonly affected in mitochondrial disorders. one explanation for this observation is that muscle tissue has a high-energy demand and therefore is more sensitive to a deficiency of mitochondrial energy production than some other tissues. in mitochondrial disorders, skeletal muscle tissue may be affected primarily by defective respirat...

More than 500 rare genetic bone disorders have been described, but for many of them only limited treatment options are available. Challenges for studying these bone diseases come from a lack of suitable animal models and unavailability of skeletal tissues for studies. Effectors for skeletal abnormalities of bone disorders may be abnormal bone formation directed by osteoblasts or anomalous bone ...

Skeletal dysplasias are a heterogeneous group of congenital bone and cartilage disorders with genetic etiology. The current classification skeletal distinguishes 461 diseases in 42 groups. incidence all is more than 1 every 5000 newborns. type dysplasia associated abnormalities affect the lethality, survival long-term prognosis dysplasias. It crucial to distinguish correctly diagnose disease es...