Here I present: “Muscular Dystrophy”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 肌肉萎缩。
INTRODUCTION.
There is evidence that autosomal recessive muscular dystrophy with cardiomyopathy and triangular tongue (MDRCMTT) is caused by compound heterozygous mutation in the LIMS2 gene on cytogenetic location 2q14.3 and genomic coordinates 2:127,638,426-127,681,786 .
The LIMS2 gene encodes an evolutionarily conserved protein critical for muscle attachment. Along with integrin-linked kinase (ILK) and parvin (LIMS2) is a component of a complex that mediates multiple protein-protein interactions at adhesion sites between cells and the extracellular matrix (ECM). This complex also functions as a signaling mediator that transmits mechanical signals.
There is evidence that muscular dystrophy is caused by a mutation in the LIM zinc finger domain-containing protein 2 (LIMS2) gene 43,361 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides LIMS2 in the 2q14.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name. |
| 2:127,257,290 | ERCC3 | ERCC excision repair 3, TFIIH core complex helicase subunit |
| 2:127,298,668 | MAP3K2 | Mitogen-activated protein kinase kinase kinase 2 |
| 2:127,418,427 | PROC | Protein C (inactivator of coagulation factors Va and VIIIa) |
| 2:127,535,683 | MYO7B | Myosin VIIb |
| 2:127,638,426 | LIMS2 | LIM zinc finger domain-containing protein 2 |
| 2:127,646,153 | GPR17 | G protein-coupled receptor-17 |
| 2:127,701,027 | WDR33 | WD repeat-containing protein 33 |
| 2:127,843,553 | POLR2D | Polymerase II, RNA, subunit D |
| 2:127,941,222 | SAP130 | Sin3A-associated protein, 130kD |
| 2:128,091,200 | UGGT1 | UDP-glucose glycoprotein glucosyltransferase 1 |
