Background Mitochondrial or oxidative phosphorylation diseases are relatively frequent,
multisystem disorders; in about 15% of cases they are caused by maternally inherited …

Aims Phenotypic heterogeneity and incomplete penetrance are common in patients with
hypertrophic cardiomyopathy (HCM). We aim to improve the understanding in genotype …

High mitochondrial DNA (mtDNA) copy numbers are essential for oogenesis and
embryogenesis and correlate with fertility of oocytes and viability of embryos. To understand …

Patients with type 2 diabetes (T2D) and/or insulin resistance (IR) have an increased risk for
the development of heart failure (HF). Evidence indicates that this increased risk is linked to …

Abstract Background SELENON (SEPN1)-related myopathy (SELENON-RM) is a rare
congenital myopathy characterized by slowly progressive proximal muscle weakness, early …

The phenotypic heterogeneity of Lamin A/C (LMNA) variants renders it difficult to classify
them. As a consequence, many LMNA variants are classified as variant of unknown …

Primary open-angle glaucoma (POAG) is characterized by optic nerve degeneration and
irreversible loss of retinal ganglion cells (RGCs). The pathophysiology is not fully …

In a Dutch non-consanguineous patient having mitochondrial encephalomyopathy with
complex I and complex IV deficiency, whole exome sequencing revealed two compound …

Variants in the ZIC3 gene are rare, but have demonstrated their profound clinical
significance in X-linked heterotaxy, affecting in particular male patients with abnormal …

Introduction Primary open-angle glaucoma (POAG) is a characteristic optic neuropathy,
caused by degeneration of the optic nerve-forming neurons, the retinal ganglion cells …