TYPE I SPINAL MUSCULAR ATROPHY
\tˈa͡ɪp a͡ɪ spˈa͡ɪnə͡l mˈʌskjʊləɹ ˈatɹəfi], \tˈaɪp aɪ spˈaɪnəl mˈʌskjʊləɹ ˈatɹəfi], \t_ˈaɪ_p aɪ s_p_ˈaɪ_n_əl m_ˈʌ_s_k_j_ʊ_l_ə_ɹ ˈa_t_ɹ_ə_f_i]\
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A group of recessively inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33 (4):281-3)
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Dopamine Acetyltransferase
- An enzyme that catalyzes the of groups from acetyl-CoA to arylamines. They have wide specificity for aromatic amines, particularly serotonin, and can also catalyze acetyl transfer between arylamines without CoA. EC 2.3.1.5.