NEMALINE MYOPATHY
\nˈɛməlˌa͡ɪn ma͡ɪˈɒpəθɪ], \nˈɛməlˌaɪn maɪˈɒpəθɪ], \n_ˈɛ_m_ə_l_ˌaɪ_n m_aɪ_ˈɒ_p_ə_θ_ɪ]\
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A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453)
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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.