Limb Girdle Muscular Dystrophies

Limb-girdle muscular dystrophy (LGMD) is a rare heterogeneous group of human diseases. Besides the characteristic presentation of weakness in the proximal limbs and shoulder or pelvic girdles, the subtypes of LGMD do not share many features in common. The group is classified, by mode of inheritance, into LGMD1 (autosomal dominant) and LGMD2 (autosomal recessive). The forms are further sub grouped based on the causative gene loci. Spontaneous animal models of LGMD are uncommon and the majority of models are in transgenic mice. Since mutations that result in LGMD sometimes result in other phenotypes, many of these animal models are useful beyond the scope of LGMD. In general the animal models of LGMD do not closely resemble the human phenotype, with a few exceptions. Although many of these models do not exactly replicate the human disease, they are still valuable tools in biomedical research, not only to further studies in understanding the mechanisms of the disease, but also to identify and test potential therapeutic targets (Table 1.2).

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