Next-generation sequencing (NGS) has increased our understanding of the molecular basis
of many primary mitochondrial diseases (PMDs). Despite this progress, many patients with …

ABSTRACT Introduction Primary mitochondrial diseases (PMDs) comprise a large and
heterogeneous group of genetic diseases that result from pathogenic variants in either …

Background and Objectives Mitochondrial diseases (MDs) are the commonest group of
heritable metabolic disorders. Phenotypic diversity can make molecular diagnosis …

Purpose: Patients with rare or ultra-rare genetic diseases, which affect 350 million people
worldwide, may experience a diagnostic odyssey. High-throughput sequencing leads to an …

Purpose Recessive deficiency of proopiomelanocortin (POMC) causes childhood-onset
severe obesity. Cases can now benefit from the melanocortin 4 receptor agonist …

Background and Objectives Owing to their extensive clinical and molecular heterogeneity,
hereditary neurologic diseases in adults are difficult to diagnose. The current knowledge …

Human mitochondrial disease exhibits large variation of clinical phenotypes, even in
patients with the same causative gene defect. We illustrate this heterogeneity by confronting …

Objective To assess the efficiency and relevance of clinical exome sequencing (cES) as a
first-tier or second-tier test for the diagnosis of progressive neurological disorders in the daily …

Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic
architecture of mtDNA disorders in diverse populations is poorly understood. We analysed …

Background: The genetic diagnosis of mitochondrial disorders is complicated by its genetic
and phenotypic complexity. Next generation sequencing techniques have much improved …