Here I present: “Welander Distal Myopathy”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 韦兰德远端肌病。
INTRODUCTION.
Distal myopathy is a group of genetic disorders that cause muscle damage and weakness, predominantly in the hands and/or feet. Mutation of many different genes can be causative. Many types involve dysferlin.
There is evidence Welander distal myopathy (WDM) is caused by heterozygous mutation in the TIA1 gene on cytogenetic location 2p13.3 and genomic coordinate 2:70,209,444-70,248,793 . The screenshot of the TIA1 gene 39,350 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides TIA1 in the 2p13.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name. |
| 2:69,893,956 | SNRNP27 | Small nuclear ribonucleoprotein U4/U6.U5, subunit 27 |
| 2:69,915,109 | MAD | MAD protein (MAX-binding protein) |
| 2:69,932,717 | ASPRV1 | Aspartic peptidase, retroviral-like 1 |
| 2:70,087,477 | PCBP1 | Poly(rC)-binding protein-1 |
| 2:70209444 | TIA1 | TIA1 cytotoxic granule-associate RNA-bind protein |
| 2:70,257,915 | PCYOX1 | Prenylcysteine oxidase 1 |
| 2:70,281,362 | SNRPG | Small nuclear ribonucleoprotein polypeptide G |
| 2:70,295,976 | FAM136A | Family with sequence similarity 136, member A |
| 2:70,447,284 | TGFA | Transforming growth factor, alpha |
| 2:70,656,784 | ADD2 | Adducin-2, beta |
