TARUI DISEASE
\tˈɑːɹuːˌi dɪzˈiːz], \tˈɑːɹuːˌi dɪzˈiːz], \t_ˈɑː_ɹ_uː_ˌi d_ɪ_z_ˈiː_z]\
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An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.
By DataStellar Co., Ltd
Word of the day
hydromorphic
- [Greek] Structurally adapted to an aquatic environment, as organs of water plants.