Severe X-linked Myotubular Myopathy(X-linked myotubular myopathy) Explore Disorder's Alias
An X-linked recessive mode(s) within the Neuromuscular disorders category
Candidate Gene Information
An X-linked recessive mode(s) within the Neuromuscular disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | DNM2/1785 | dynamin 2 | 19p13.2 | Chr19, NC_000019.10 (10718079..10831903) |
113825 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | MTM1/4534 | myotubularin 1 | Xq28 | ChrX, NC_000023.11 (150562653..150673143) |
110491 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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