Site icon Holiday Recipes to Cook

“Hereditary Motor-sensory Neuropathy LOM-type”, Victor McKusick, Mendelian Inheritance in Man, 1966. (HMSNL) 遺傳性運動和感覺神經病變。icd10=G60.0

Genomic coordinate 8:133,237,175 



Here I present: Hereditary Motor-sensory Neuropathy LOM-type”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (HMSNL) 遺傳性運動和感覺神經病變icd10=G60.0

INTRODUCTION.

Hereditary motor-sensory neuropathy (HMSN) is a name sometimes given to a group of different neuropathies which are all characterized by their impact upon both afferent and efferent neural communication. HMSN are characterised by atypical neural development & degradation of neural tissue.


The two (2) common forms of HMSN are either hypertrophic demyelinated nerves or complete atrophy of neural tissue. Hypertrophic condition causes neural stiffness and a demyelination of nerves in the peripheral nervous system, and complete atrophy causes the breakdown of axons and neural cell bodies.  

Hereditary motor-sensory neuropathy LOM-type (HMSNL) Charcot-Marie-Tooth is known to be caused by homozygous mutation in the NDRG1 gene on cytogenetic location 8q24.22 and genomic coordinates 8:133,237,175-133,297,252.  The screenshot of the  N-myc downstream-regulated gene-(NDRG1) gene 60,078 bp (base pairs) of DNA sequence length is shown BELOW.  Nine (9) other genes besides NDGR1 in the 8q24.22 cytogenetic location are listed BENEATH.

 

 

 




 

Coordinate  Symbol  Genomic Name
8:132,866,958  TG Thyroglobulin
8:133,036,728  SLA Src-like-adaptor
8:133,054,959  PTCSC1 Papillary thyroid carcinoma susceptibility candidate 1 
8:133,191,039  CCN4 Cellular communication netowrk factor 4
8:133,237,175  NDRG1 N-myc downstream-regulated gene 1
8:133,454,848  ST3GAL1 ST3 beta-galactoside alpha-2,3-sialyltransferase 1
8:134,477,788  ZFAT1 Zinc finger gene in autoimmune thyroid disease 1
8:134,800,520  MIR30B Micro RNA 30B
8:134,804,876  MIR30D Micro RNA 30D
8:135,457,456  KHDRBS3 KH domain-containing, RNA-binding, signal protein 3

Exit mobile version