| Concept UI |
CON00628 (Tree)
|
| Name |
Myasthenia, congenital, with tubular aggregates 1
|
| Aliases |
CMSTA1
|
| Disease name: Preferred Term |
MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 1
|
| Disease name: Preferred Term ABBR |
CMSTA1
|
| UMLS CUI |
C3552335
|
| OMIM DATA: Gene |
GFPT1
|
| OMIM DATA: Gene Number |
138292
|
| OMIM DATA: Phenotype Number |
610542
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Muscle Weakness
- Muscular Atrophy (Muscle wasting)
- Muscular Diseases
- Neuromuscular Manifestations
|
|
References
|
- Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation.
- Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317.
|