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Browse result for Severe X-linked myotubular myopathy
※ introduction X-linked myotubular myopathy (MTM) is a form of centronuclear myopathy (CNM) associated with mutations in the myotubularin 1 gene. It is found almost always in male infants. It is one of the severest congenital muscle diseases and is characterized by marked muscle weakness, hypotonia and feeding and breathing difficulties.
Reference
Wiki: Severe X-linked myotubular myopathy
Reference
Wiki: Severe X-linked myotubular myopathy
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD05389 | P50570 | 1785 | DNM2 | Dynamin-2 | Homo sapiens |
| PTMD06563 | Q13496 | 4534 | MTM1 | Myotubularin | Homo sapiens |
