P670: Clinical features and molecular findings of a rare case of LGMDR18

Limb girdle muscular dystrophies are a group neuromuscular disorders characterized by proximal muscle weakness of variable severity and dystrophic changes on histology. There are currently more than 30 known subtypes of both autosomal dominant and recessive LGMDs associated with at least 34 reported genes. There is a wide spectrum of phenotypes among the LGMDs with clinical diagnosis conventionally guided by characteristic presentations of sub-types. However, the wide clinical and genetic heterogeneity as well as overlapping subtypes make precise diagnosis a challenge.