Desmin-related myopathy

A novel custom resequencing array for dilated cardiomyopathy

(2010) Rebekah S Zimmerman et al.   GENETICS IN MEDICINE

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

(2010) Ellen Otten et al.   HEART RHYTHM

Mutations in Desmin's Carboxy-Terminal “Tail” Domain Severely Modify Filament and Network Mechanics

(2010) Harald Bär et al.   JOURNAL OF MOLECULAR BIOLOGY

The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy

(2010) Peter Reilich et al.   NEUROMUSCULAR DISORDERS

Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain

(2010) Luis Vernengo et al.   NEUROMUSCULAR DISORDERS

2009 Focused Update: ACCF/AHA Guidelines for the Diagnosis and Management of Heart Failure in Adults

(2009) et al.   CIRCULATION

Restrictive cardiomyopathy

(2009) Jens Mogensen et al.   CURRENT OPINION IN CARDIOLOGY

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

Desmin and Vimentin Intermediate Filament Networks: Their Viscoelastic Properties Investigated by Mechanical Rheometry

(2009) Michael Schopferer et al.   JOURNAL OF MOLECULAR BIOLOGY

Disease mutations in the “head” domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties

(2009) Sarika Sharma et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy

(2009) Murielle Dunand et al.   NEUROMUSCULAR DISORDERS

Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin

(2009) Gerard Piñol-Ripoll et al.   NEUROMUSCULAR DISORDERS

Interference of amino-terminal desmin fragments with desmin filament formation

(2009) Harald Bär et al.   CELL MOTILITY AND THE CYTOSKELETON

Myofibrillar myopathies

(2008) Duygu Selcen   CURRENT OPINION IN NEUROLOGY

How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy

(2008) Christoph S. Clemen et al.   HUMAN MUTATION

Desmin mediates TNF-α–induced aggregate formation and intercalated disk reorganization in heart failure

(2008) Panagiota Panagopoulou et al.   JOURNAL OF CELL BIOLOGY

Distinct muscle imaging patterns in myofibrillar myopathies

(2008) D. Fischer et al.   NEUROLOGY

Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies

(2008) Katharina Strach et al.   NEUROMUSCULAR DISORDERS

Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family

(2008) Emmanuel C. Pica et al.   NEUROMUSCULAR DISORDERS

Diversity of cardiomyopathy phenotypes caused by mutations in desmin

(2007) Anna Kostera-Pruszczyk et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY