Article
Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases.
Annals of neurology - 1 Nov 2000
Ferreiro A, Estournet B, Chateau D, Romero N B, Laroche C, Odent S, Toutain A, Cabello A, Fontan D, dos Santos H G, Haenggeli C A, Bertini E, Urtizberea J A, Guicheney P, Fardeau M
Abstract excerpt
Multi-minicore disease (MmD) is a congenital myopathy morphologically defined by the presence of multiple small zones of sarcomeric disorganization and lack of oxidative activity ("minicores") in muscle fibers. The dinical expression of MmD is considered to be greatly variable, and the morphological lesions are nonspecific; therefore, its boundaries are poorly defined, and its molecular bases are not known. To...
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