TUBULAR AGGREGATE MYOPATHY
\tjˈuːbjʊləɹ ˈaɡɹɪɡˌe͡ɪt ma͡ɪˈɒpəθɪ], \tjˈuːbjʊləɹ ˈaɡɹɪɡˌeɪt maɪˈɒpəθɪ], \t_j_ˈuː_b_j_ʊ_l_ə_ɹ ˈa_ɡ_ɹ_ɪ_ɡ_ˌeɪ_t m_aɪ_ˈɒ_p_ə_θ_ɪ]\
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A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality.
By DataStellar Co., Ltd
Word of the day
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.