Objective γ‐Aminobutyric acid (GABA) A ‐receptor subunit variants have recently been
associated with neurodevelopmental disorders and/or epilepsy. The phenotype linked with each …

Spinal muscular atrophy (SMA) is a neuromuscular autosomal recessive disorder caused
by bi-allelic pathogenic variants in the SMN1 gene. 95% of SMA patients have a SMN1 …

Mitochondrial diseases (MD) are rare disorders caused by deficiency of the mitochondrial
respiratory chain, which provides energy in each cell. They are characterized by a high clinical …

Mitochondrial DNA (mtDNA) depletion syndrome (MDS; MIM 251880) is a prevalent cause
of oxidative phosphorylation disorders characterized by a reduction in mtDNA copy number. …

Mitochondrial DNA instability disorders are responsible for a large clinical spectrum, among
which amyotrophic lateral sclerosis-like symptoms and frontotemporal dementia are …

Background: Maternally inherited diabetes and deafness (MIDD), which is seen in 0.5% to
2.8% of patients with type 2 diabetes mellitus, is related to a point mutation at position 3243 of …

Several initiatives at establishing a classification of inherited metabolic disorders have been
published previously, some focusing on pathomechanisms, others on clinical manifestations…

MFN2 and OPA1 genes encode two dynamin-like GTPase proteins involved in the fusion of
the mitochondrial membrane. They have been associated with Charcot–Marie–Tooth …

Several lines of recent evidence indicate that the amyloid precursor protein-derived C-terminal
fragments (APP-CTFs) could correspond to an etiological trigger of Alzheimer’s disease (…

CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired
mitochondrial genome maintenance and inhibition of apoptosis | EMBO Molecular Medicine All …