Driven by increasing numbers of newly identified genetic defects and new insights into the
field of inherited muscle diseases, neuromuscular imaging in general and magnetic …

The intermediate filament protein desmin is an essential component of the extra-sarcomeric
cytoskeleton in muscle cells. This three-dimensional filamentous framework exerts central …

Objective: To provide evidence‐based guidelines to general neurologists for the
assessment of patients with pauci‐or asymptomatic hyperCKemia. Background: Recent …

Increasing usage of next-generation sequencing techniques pushed during the last decade
cardiogenetic diagnostics leading to the identification of a huge number of genetic variants …

van Spaendonck‐Zwarts KY, van Hessem L, Jongbloed JDH, de Walle HEK, Capetanaki Y,
van der Kooi AJ, van Langen IM, van den Berg MP, van Tintelen JP. Desmin‐related …

Aims With more than 40 dilated cardiomyopathy (DCM)‐related genes known, genetic
analysis of patients with idiopathic DCM is costly and time‐consuming. We describe the …

Myofibrillar myopathies (MFMs) are histopathologically characterized by desmin‐positive
protein aggregates and myofibrillar degeneration. Because of the marked phenotypic and …

Mutations in alpha-B crystallin gene (CRYAB) have been described to cause congenital
cataracts, dilated cardiomyopathy and myofibrillar myopathy. For skeletal myopathy, only …

Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiomyopathy characterised by
ventricular arrhythmia and an increased risk of sudden cardiac death (SCD). Numerous …

Currently, little is known about the genetic background of restrictive cardiomyopathy (RCM).
Herein, we screened an index patient with RCM in combination with atrial fibrillation using a …