Summary Charcot–Marie–Tooth disease is the most common inherited neuromuscular
disorder. There have been substantial advances in elucidating the molecular bases of this …

Molecular medicine began with Pauling's seminal work, which recognized sickle-cell
anemia as a molecular disease, and with Ingram's demonstration of a specific chemical …

De novo mutation plays an important role in autism spectrum disorders (ASDs). Notably,
pathogenic copy number variants (CNVs) are characterized by high mutation rates. We …

Abstract Objective Charcot‐Marie‐Tooth disease (CMT) affects 1 in 2,500 people and is
caused by mutations in more than 30 genes. Identifying the genetic cause of CMT is often …

Peripheral neuropathy occurs as a component of several common and many rare diseases.
It is heterogenous in aetiology, diverse in pathology, and varied in severity. The term …

Background Charcot–Marie–Tooth disease (CMT) is a clinically and genetically
heterogeneous group of diseases with approximately 45 different causative genes …

Summary Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous
distal symmetric polyneuropathy. Whole-exome sequencing (WES) of 40 individuals from 37 …

Charcot-Marie-Tooth (CMT) neuropathies comprise a group of monogenic disorders
affecting the peripheral nervous system. CMT is characterized by a clinically and genetically …

Insect meals are novel and potentially sustainable protein sources. The objectives of this
study were to determine the chemical composition and standardized amino acid digestibility …

Many clinical phenotypes occur sporadically despite genetics contributing partly or entirely
to their cause. To what extent are de novo mutations the cause of sporadic traits? Locus …