| 概要 |
Progressive encephalopathy with amyotrophy and optic atrophy (PEAMO) is an early-onset and progressive neurodegenerative encephalopathy with distal spinal muscular atrophy. Mutations in TBCE gene, encoding one of the five tubulin-specific chaperones involved in tubulin folding and polymerization, have been reported from unrelated families.
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| 著者 |
Sferra A, Baillat G, Rizza T, Barresi S, Flex E, Tasca G, D'Amico A, Bellacchio E, Ciolfi A, Caputo V, Cecchetti S, Torella A, Zanni G, Diodato D, Piermarini E, Niceta M, Coppola A, Tedeschi E, Martinelli D, Dionisi-Vici C, Nigro V, Dallapiccola B, Compagnucci C, Tartaglia M, Haase G, Bertini E |
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