title: Neuromuscular disease. Diagnosis and discovery in limb-girdle muscular dystrophy.
abstract: Whole-exome sequencing is a new tool for neuromuscular clinicians, and recent findings show that it improves the diagnosis of limb-girdle muscular dystrophy. The technique has a dual role as a tool for diagnosis and discovery in genetically heterogeneous neuromuscular diseases.
authors.affiliation: IRCCS San Camillo Hospital, Via Alberoni 70, Lido, 30126 Venice, Italy.
authors.forename: Corrado
authors.initials: C
authors.lastname: Angelini
mesh_terms: D059472:Exome / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis*; D009154:Mutation / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods*