Here I present: “Charcot-Marie-Tooth Neuropathy” (CMT), Victor McKusick, Mendelian Inheritance in Man’, 1966.
INTRODUCTION.
Charcot–Marie–Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. This disease is the most commonly inherited neurological disorder, affecting one in 2,500 people. Those who classically described it were: the Jean-Martin Charcot (1825–1893), Pierre Marie (1853–1940), and Howard Henry Tooth (1856–1925). Thus the name Charcot-Marie-Tooth disease (CMT).
Charcot-Marie-Tooth disease type 1B (CMT1B) is caused by heterozygous mutation in the myelin protein-zero (MPZ gene). Mutations in the myelin protein-zero (MPZ) gene can cause sensorineural neuropathies, including Dejerine-Sottas disease, congenital hypomyelinating neuropathy, and some forms of axonal CMT type 2. The MPZ gene is on cytogenetic location 1q23.3 and genomic coordinates 1:161,303,600-161,309,968 . The screenshot of the myelin protein-zero (MPZ) gene 6,369 bp (base pairs) of DNA sequence length is shown BELOW.
