Desmin-related Myofibrillar Myopathy(Myofibrillar myopathy 1)
An Autosomal dominant, Autosomal recessive mode(s) within the Neuromuscular disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal 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 | DES/1674 | desmin | 2q35 | Chr2, NC_000002.12 (219418377..219426734) |
8358 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | TTN/7273 | titin | 2q31.2 | Chr2, NC_000002.12 (178525989..178807423, complement) |
281435 nt | 364 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities