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

Abstract Charcot–Marie–Tooth disease (CMT) refers to a group of inherited neuropathies
with a broad range of phenotypes, inheritance patterns and causative genes. The number of …

An increasing number of human diseases are recognized to result from recurrent DNA
rearrangements involving unstable genomic regions. These are termed genomic disorders …

Genomic rearrangements describe gross DNA changes of the size ranging from a couple of
hundred base pairs, the size of an average exon, to megabases (Mb). When greater than 3 …

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 …

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant
disorder that causes episodes of focal demyelinating neuropathy following minor trauma to …

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 …

Abstract Charcot–Marie–Tooth disease type 1A (CMT1A), the most frequent form of CMT, is
caused by a 1.5 Mb duplication on the short arm of chromosome 17. Patients with CMT1A …

▪ Abstract Cytogenetic imbalance in the newborn is a frequent cause of mental retardation
and birth defects. Although aneuploidy accounts for the majority of imbalance, structural …