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rigid spine muscular dystrophy 1
Summary
- Synonym
-
- Eichsfeld type congenital muscular dystrophy
- MDRS1
- RSMD1
- RSS
- SEPN1-related myopathy
- classic MmD
- classic multiminicore disease
- classic multiminicore myopathy
- congenital merosin-positive muscular dystrophy with early spine rigidity
- desmin-related myopathy with Mallory bodies
- desmin-related myopathy with Mallory body-like inclusions
- early-onset desmin-related myopathy
- rigid spine syndrome
- severe classic form minicore myopathy
- severe classic form multicore myopathy
- severe classic form multiminicore disease
- Definition
- A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36.
- Super Class
- autosomal recessive disease congenital muscular dystrophy spinal disease
External Links
- Disease Ontology
- DOID:0110633
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5563 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 | |
| 9200 | HACD1 | 3-hydroxyacyl-CoA dehydratase 1 | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 11041 | B4GAT1 | beta-1,4-glucuronyltransferase 1 | |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
| 64419 | MTMR14 | myotubularin related protein 14 | |
| 79147 | FKRP | fukutin related protein |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q12860 | Contactin-1 | |
| Q13085 | Acetyl-CoA carboxylase 1 | |
| Q8NCE2 | Myotubularin-related protein 14 | |
| Q9H9S5 | Ribitol 5-phosphate transferase FKRP | |
| Q9Y259 | Choline/ethanolamine kinase | |
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
