The human transcriptome is composed of a vast RNA population that undergoes further
diversification by splicing. Detecting specific splice sites in this large sequence pool is the …

The nuclear envelope is composed of the nuclear membranes, nuclear lamina, and nuclear
pore complexes. Laminopathies are diseases caused by mutations in genes encoding …

In this scientific statement from the American Heart Association, experts in the field of
cardiomyopathy (heart muscle disease) in children address 2 issues: the most current …

Cardiac and skeletal striated muscles are intricately designed machines responsible for
muscle contraction. Coordination of the basic contractile unit, the sarcomere, and the …

Mutations in the LMNA gene, which encodes the nuclear envelope (NE) proteins lamins A/C,
cause Emery–Dreifuss muscular dystrophy, congenital muscular dystrophy and other …

The muscular dystrophies are inherited myogenic disorders characterised by progressive
muscle wasting and weakness of variable distribution and severity. They can be subdivided …

Objectives: The purpose of this study was to determine risk factors that predict malignant
ventricular arrhythmias (MVA) in Lamin A/C (LMNA) mutation carriers. Background: LMNA …

The nucleus is the defining feature of eukaryotic cells and often represents the largest
organelle. Over the past decade, it has become apparent that the nucleus is tightly …

Mutations in nuclear lamins or other proteins of the nuclear envelope are the root cause of a
group of phenotypically diverse genetic disorders known as laminopathies, which have …

Limb-girdle muscular dystrophies (LGMD) are a highly heterogeneous group of muscle
disorders, which first affect the voluntary muscles of the hip and shoulder areas. The …