X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample.
Mora M, Cartegni L, Di Blasi C, Barresi R, Bione S, Raffaele di Barletta M, Morandi L, Merlini L, Nigro V, Politano L, Donati MA, Cornelio F, Cobianchi F, Toniolo D.
Mora M, et al. Among authors: politano l.
Ann Neurol. 1997 Aug;42(2):249-53. doi: 10.1002/ana.410420218.
Ann Neurol. 1997.
PMID: 9266737