Here I present: “Spinal Muscular Atrophy”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 脊髓肌肉萎縮。(SNM1) icd10=G12.9
INTRODUCTION.
Spinal muscular atrophy refers to a group of autosomal recessive neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy
There is evidence spinal muscular atrophy type-1 (SMA1) is caused by mutation or deletion in the telomeric copy of the survival of motor neuron-1-telomeric (SMN) gene, known as (SMN1) on cytogenetic location 5q13.2 and genomic coordinates 5:70,924,941-70,966,375. The screenshot of the SMN1 gene 41,435 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides SMN1 in the 5q13.2 are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 5:69,415,116 | MARVELD2 | Marvel domain-containing protein 2 (tricellulin) |
| 5:69,492,547 | OCLN | Occludin |
| 5:70,049,523 | SMN2 | Survival of motor neuron 2, centromeric |
| 5:70,900,669 | SERF1A | Small EDRK-rich factor 1A |
| 5:70,924,941 | SMN1 | Survival of motor neuron 1, telomeric |
| 5:70,968,166 | BIRC1 | Baculoviral IAP repeat-containing 1 |
| 5:71,035,347 | GTF2H2 | General transcription factor IIH, polypeptide 2 |
| 5:71,375,785 | PMCHL2 | Pro-melanin-concentrating hormone-like 2 |
| 5:71,455,651 | BDP1 | B double prime 1, subunit of RNA polymerase III |
| 5:71,587,340 | MCCC2 | 3-Methylcrotonyl-CoA carboxylase 2 |
