Article
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).
Human molecular genetics - 1 Aug 2014
Vieira Natássia M, Naslavsky Michel S, Licinio Luciana, Kok Fernando, Schlesinger David, Vainzof Mariz, Sanchez Nury, Kitajima João Paulo, Gal Lihi, Cavaçana Natale, Serafini Peter R, Chuartzman Silvia, Vasquez Cristina, Mimbacas Adriana, Nigro Vincenzo, Pavanello Rita C, Schuldiner Maya, Kunkel Louis M, Zatz Mayana
Abstract excerpt
Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined muscle disorders with a primary or predominant involvement of the pelvic or shoulder girdle musculature. More than 20 genes with autosomal recessive (LGMD2A to LGMD2Q) and autosomal dominant inheritance (LGMD1A to LGMD1H) have been mapped/identified to date. Mutations are known for six among the eight mapped autosomal...
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