A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene

(2013) Maria J. Melià et al.   BRAIN

The evolutionarily conserved RNA binding protein SMOOTH is essential for maintaining normal muscle function

(2013) Isabelle Draper et al.   FLY

A novel single-cell screening platform reveals proteome plasticity during yeast stress responses

(2013) Michal Breker et al.   JOURNAL OF CELL BIOLOGY

Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

(2013) Annalaura Torella et al.   PLoS One

Update on the Genetics of Limb Girdle Muscular Dystrophy

(2012) Satomi Mitsuhashi et al.   Seminars in Pediatric Neurology

A new locus on 3p23–p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H

(2010) Luigi Bisceglia et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS