Miyoshi Muscular Dystrophy(Miyoshi myopathy) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Neuromuscular disorders category
Candidate Gene Information
An 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 | ANO5/203859 | anoctamin 5 | 11p14.3 | Chr11, NC_000011.10 (22192473..22283357) |
90885 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
2 | DYSF/8291 | dysferlin | 2p13.2 | Chr2, NC_000002.12 (71453561..71686763) |
233203 nt | 58 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
Variant Information | ||||||||
Disorder Cross-References: GARD GTR MalaCards NORD |
Patient care services
Clinical Symptoms & Disabilities
Prevalence
Under development |