MARIES CEREBELLAR ATAXIA
\mˈe͡əɹiz sˈɛɹɪbˌɛləɹ atˈe͡ɪksi͡ə], \mˈeəɹiz sˈɛɹɪbˌɛləɹ atˈeɪksiə], \m_ˈeə_ɹ_i_z s_ˈɛ_ɹ_ɪ_b_ˌɛ_l_ə_ɹ a_t_ˈeɪ_k_s_iə]\
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A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.
By DataStellar Co., Ltd
Word of the day
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.