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Congenital muscular dystrophies with cognitive impairment: A population study

โœ Scribed by Messina, S.; Bruno, C.; Moroni, I.; Pegoraro, E.; D'Amico, A.; Biancheri, R.; Berardinelli, A.; Boffi, P.; Cassandrini, D.; Farina, L.; Minetti, C.; Moggio, M.; Mongini, T.; Mottarelli, E.; Pane, M.; Pantaleoni, C.; Pichiecchio, A.; Pini, A.; Ricci, E.; Saredi, S.; Sframeli, M.; Tortorella, G.; Toscano, A.; Trevisan, C. P.; Uggetti, C.; Vasco, G.; Comi, G. P.; Santorelli, F. M.; Bertini, E.; Mercuri, E.


Book ID
118032094
Publisher
Lippincott Williams and Wilkins
Year
2010
Tongue
English
Weight
335 KB
Volume
75
Category
Article
ISSN
0028-3878

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We report a new form of congenital muscular dystrophy (CMD) in 4 patients from three unrelated families with probable autosomalrecessive inheritance. All patients had the clinical characteristics of merosinpositive congenital muscular dystrophy, but had marked mental retardation. The disease was slo