Here I present: “Charcot-Marie-Tooth Neuropathy”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (CMT2D) シャルコート・マリー・トゥース神経障害。icd10=G60.0
INTRODUCTION.
Charcot-Marie-Tooth disease (CMT) constitutes a clinically and genetically heterogeneous group of hereditary motor and sensory neuropathies. On the basis of electrophysiologic criteria, CMT is divided into 2-major types: type-1, the demyelinating form, characterized by a slow motor median nerve conduction velocity (NCV) (less than 38 m/s), and type-2, the axonal form, with a normal NCV.
Distal hereditary motor neuropathy also known as spinal CMT, is a minor third type of CMT characterized by normal motor and sensory NCV, and degeneration of spinal cord anterior horn cells.
There is evidence that Charcot-Marie-Tooth disease type-2D is caused by heterozygous mutation in the GARS1 gene, which encodes glycyl tRNA synthetase, on cytogenetic location 7p14.3 and genomic coordinates 7:30,594,735-30,634,033. The screenshot of the GARS1 gene 39,299 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides GARS1 in the 7p14.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 7:30,134,986 | MTURN | Maturin, neural protenitor differentiation regulator |
| 7:30,284,597 | ZNRF2 | Zinc finger and ring finger protein 2 |
| 7:30,424,527 | NOD1 | Nucleotide-binding oligomerization domain protein 1 |
| 7:30,496,621 | GGCT | Gamma-glutamylcyclotransferase |
| 7:30,594,735 | GARS1 | Glycyl-tRNA synthetase 1 |
| 7:30,651,942 | CRHR2 | Corticotropin releasing hormone receptor-2 |
| 7:30,752,135 | INMT | Indolethylamine N-methyltransferase |
| 7:30,911,853 | AQP1 | Aquaporin-1 |
| 7:30,963,953 | GHRHR | Growth hormone releasing hormone receptor |
| 7:31,052,308 | ADCYAP1R1 | ADCYAP receptor, type I |
