Browsing by Author "7a6f7e4c-73bc-4a89-8597-f85543582c80"
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Castiglioni, Claudia; Fattori, Fabiana; Udd, Bjarne; De Los Angeles Avaria, Maria; Suarez, Bernardita; D'Amico, Adele; Malandrini, Alessandro; Carrozzo, Rosalba; Verrigni, Daniela; Bertini, Enrico; Tasca, Giorgio (Nature Publishing Group, 2018)© 2018 European Society of Human Genetics.We identified three non-related patients manifesting a childhood-onset progressive neuromyopathy with congenital cataracts, delayed walking, distal weakness and wasting, glaucoma ...