Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 (LGMDR8)

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8, also known as sarcotubular myopathy, is related to bardet-biedl syndrome 11 and autosomal recessive limb-girdle muscular dystrophy type 2h, and has symptoms including waddling gait, facial paresis and quadriceps muscle weakness. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 is TRIM32 (Tripartite Motif Containing 32), and among its related pathways/superpathways are Striated muscle contraction pathway and Cardiomyocyte signaling pathways converging on Titin. Affiliated tissues include skeletal muscle, and related phenotypes are emg: myopathic abnormalities and proximal muscle weakness