Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

Multiminicore disease (MmD) is an autosomal recessive congenital myopathy characterized by the presence of multiple, short core lesions (known as “minicores”) in most muscle fibers. MmD is a clinically heterogeneous condition, in which four subgroups have been distinguished. Homozygous RYR1 mutation...

Ful tanımlama

Detaylı Bibliyografya

Yayımlandı:	Am J Hum Genet
Asıl Yazarlar:	Ferreiro, Ana, Quijano-Roy, Susana, Pichereau, Claire, Moghadaszadeh, Behzad, Goemans, Nathalie, Bönnemann, Carsten, Jungbluth, Heinz, Straub, Volker, Villanova, Marcello, Leroy, Jean-Paul, Romero, Norma B., Martin, Jean-Jacques, Muntoni, Francesco, Voit, Thomas, Estournet, Brigitte, Richard, Pascale, Fardeau, Michel, Guicheney, Pascale
Materyal Türü:	Artigo
Dil:	Inglês
Baskı/Yayın Bilgisi:	Elsevier 2002
Konular:	Articles
Online Erişim:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC378532/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/12192640/ https://ncbi.nlm.nih.govhttps://doi.org/10.1086/342719
Etiketler:	Etiketle Etiket eklenmemiş, İlk siz ekleyin!