GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders  

Miyoshi Muscular Dystrophy(Miyoshi myopathy)      Explore Disorder's Alias
An Autosomal recessive mode(s) within the Neuromuscular disorders category
Reported Pathogenic variants
Candidate Gene Information
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