BECKER GENERALIZED MYOTONIA
\bˈɛkə d͡ʒˈɛnəɹə͡lˌa͡ɪzd mˌa͡ɪətˈə͡ʊni͡ə], \bˈɛkə dʒˈɛnəɹəlˌaɪzd mˌaɪətˈəʊniə], \b_ˈɛ_k_ə dʒ_ˈɛ_n_ə_ɹ_əl_ˌaɪ_z_d m_ˌaɪ_ə_t_ˈəʊ_n_iə]\
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A dominantly inherited muscle disease that begins in early childhood and is characterized by severe myotonia (delayed relaxation of a muscle) after forceful voluntary contractions. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. Myotonia typically becomes less severe with repetitive voluntary contractions of the affected muscles. Generalized myotonia (of Becker) is an autosomal recessive variant of myotonia congenita that may feature more severe myotonia and muscle wasting. (From Adams et al., Principles of Neurology, 6th ed, pp1476-7; Joynt, Clinical Neurology, 1997, Ch53, p18)
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Procollagen Proline Dioxygenase
- mixed-function oxygenase that catalyzes hydroxylation prolyl-glycyl-containing-peptide, usually in protocollagen, hydroxyprolylglycyl-peptide. The enzyme utilizes molecular oxygen with a concomitant oxidative decarboxylation of 2-oxoglutarate to succinate. EC 1.14.11.2.