Article
Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy.
Neuromuscular disorders : NMD - 1 Feb 2012
Carboni Nicola, Mura Marco, Mercuri Eugenio, Marrosu Giovanni, Manzi Rosa C, Cocco Eleonora, Nissardi Vincenzo, Isola Franco, Mateddu Anna, Solla Elisabeta, Maioli Maria A, Oppo Valentina, Piras Rachele, Marini Stefano, Lai Carlo, Politano Luisa, Marrosu Maria G
Abstract excerpt
The following is a report on a large family with 5 males affected by the X-linked recessive form of Emery-Dreifuss muscular dystrophy with mutation in the STA gene. A detailed longitudinal cardiological evaluation and muscle imaging studies allowed for the assessment of intrafamilial variability of cardiac and muscle involvement. Long term cardiological follow up in the 5 affected males and in 7 female carriers...
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