Here I present: “Limb-Girdle Muscular-Dystrophy Type-2E”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 肢帶肌肉萎縮症-2E型。(LGMD2E).
INTRODUCTION.
Limb-Girdle Muscular-Dystrophy Type-2E (LGMD2E) is an inherited condition that causes deterioration of the skeletal muscles, especially those around the hips, shoulders, upper arms, pelvic area, and thighs. Most of the time this disease is diagnosed in childhood, when the affected individual begins to have trouble with tasks like walking, climbing the stairs, and rising from a sitting position. However, mild cases may not be manifest until adulthood. LGMD2E is a progressive disease, and muscles will continue to waste, often leading the patient to require a wheelchair. In addition, patients may experience a weakening of the heart muscle, which may shorten life expectancy. LGMD2E does not affect intelligence or mental function.
There is evidence autosomal recessive limb-girdle muscular dystrophy type-2E (LGMD2E) is caused by homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on cytogenetic location 4q12 and genomic coordinates 4:52,020,706-52,038,299. The screenshot of the SGCB gene 17,594 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides SGCB in the 4q12 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 4:51,800,001 | MRT31 | Intellectual developmental disorder, 31 |
| 4:51,800,001 | MYP9 | Myopia 9 |
| 4:51,800,001 | TAPVR1 | Total anomalous pulmonary venous return 1 |
| 4:51,833,884 | DCUN1D4 | DCN1 domain-containing protein 4 |
| 4:52,020,706 | SGCB | Sarcoglycan, beta |
| 4:52,051,304 | SPATA18 | Spermatogenesis-associated protein 18 |
| 4:52,590,960 | USP46 | Ubiquitin-specific peptidase 46 |
| 4:52,712,394 | DANCR | Differentiation-antagonizing noncoding RNA |
| 4:52,712,682 | MIR4449 | Micro RNA 4449 |
| 4:52,713,249 | SNORA26 | Small nucleolar RNA, H/ACA box, 26 |
