A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies

LINC complexes in health and disease

(2014) Alexandre Méjat   Nucleus

Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics

(2011) Steven A. Greenberg et al.   ANNALS OF NEUROLOGY

Myofibrillar myopathies

(2011) Duygu Selcen   NEUROMUSCULAR DISORDERS

The 2012 version of the gene table of monogenic neuromuscular disorders

(2011)   NEUROMUSCULAR DISORDERS

Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy

(2010) Hulya Gundesli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Limb–girdle muscular dystrophies

(2008) Michela Guglieri et al.   CURRENT OPINION IN NEUROLOGY