Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Myofibrillar myopathies

(2011) Duygu Selcen   NEUROMUSCULAR DISORDERS

Arrhythmogenic Right Ventricular Cardiomyopathy and Desmin: Another gene fits the shoe

(2010) Karen Maass   HEART RHYTHM

Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks

(2010) Ellen Otten et al.   HEART RHYTHM

De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy

(2010) Baerbel Klauke et al.   HUMAN MOLECULAR GENETICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene

(2009) J. Peter van Tintelen et al.   HEART RHYTHM

Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease

(2009) Lev G. Goldfarb et al.   JOURNAL OF CLINICAL INVESTIGATION

Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3

(2008) Angelika Kuhl et al.   EUROPEAN JOURNAL OF HUMAN GENETICS