Article
Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency.
Neuromuscular disorders : NMD - 1 Aug 2012
Pane M, Messina S, Vasco G, Foley A R, Morandi L, Pegoraro E, Mongini T, D'Amico A, Bianco F, Lombardo M E, Scalise R, Bruno C, Berardinelli A, Pini A, Moroni I, Mora M, Toscano A, Moggio M, Comi G, Santorelli F M, Bertini E, Muntoni F, Mercuri E
Abstract excerpt
The aim of this retrospective study was to assess respiratory and cardiac function in a large cohort of patients with congenital muscular dystrophies (CMD) with reduced glycosylation of alphadystroglycan (α-DG). Thirteen of the 115 patients included in the study died between the age of 1 month and 20 years. The age at last follow up of the surviving 102 ranged between 1 year and 68 years (median: 9.3 years)....
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