Here I present: “Edstrom Myopathy”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 埃德斯特龙肌病。(MFM9).
INTRODUCTION.
Edstrom Myopathy is a term for myofibrillar myopathy type-9 (MFM9) an autosomal dominant muscle disorder characterized by adult onset of slowly progressive muscle weakness with diaphragmatic involvement causing respiratory insufficiency.
Myofibrillar myopathies (MFM) are muscular disorders involving proteins that play a role in the structure, maintenance processes and protein quality control mechanisms closely related to the Z-disc in the muscular fibers. MFM share common histological characteristics including progressive disorganization of the interfibrillar network and protein aggregation. Currently no treatment is available. In this review, I describe mutations of the seven genes (TTN, DES, CRYAB, MYOT, ZASP, FLNC and BAG3) primary involved in MFM and defining the origin of this pathology.
There is evidence that myofibrillar myopathy type–9 with early respiratory failure (MFM9) is caused by heterozygous mutation in the protein kinase domain of titin (TTN) on cytogenetic location 2q31.2 and genomic coordinates 2:178,525,989-178,807,423 . The screenshot of the TTN gene 281,435 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides TTN in the 2q31.2 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name. |
| 2:178,431,414 | PRKRA | Protein kinase, interferon RNA activator |
| 2:178,451,378 | PJVK | Pejvakin |
| 2:178,463,664 | FKBP7 | FK506-binding protein 7 |
| 2:178,480,457 | PLEKHA3 | Pleckstrin protein, family A, 3 |
| 2:178,525,989 | TTN | Titan |
| 2:178,814,978 | CCDC141 | Coiled-coil domain-containing protein 141 |
| 2:179,441,982 | ZNF385B | Zinc finger protein 385B |
| 2:179,700,001 | DA10 | Arthrogryposis, distal, type 10 |
| 2:179,860,836 | MIR1258 | Micro RNA 1258 |
| 2:179,944,876 | CWC22 | CWC22 spliceosome-associated protein |
