GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Eichsfeld Type Congenital Muscular Dystrophy  
Disease Aliases (16)

Desmin-related myopathy with mallory bodies

Desmin-related myopathies with mallory bodies

Mdrs1

Minicore myopathy, severe classic form

Multicore myopathy, severe classic form

Multiminicore disease, severe classic form

Muscular dystrophy, congenital, eichsfeld type

Muscular dystrophy, congenital, merosin-positive, with early spine rigidity

Muscular dystrophy, congenital, merosin positive with early spine rigidity

Myopathy, sepn1-related

Rsmd1

Rss

Rigid spine muscular dystrophy 1

Rigid spine congenital muscular dystrophy

Rigid spine muscular dystrophy-1

Rigid spine syndrome

Associated Genes (2)
 

NCBI-RefSeq:  SELENON   (Selenoprotein N)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  ACTA1   (Actin alpha 1, skeletal muscle)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Eichsfeld type congenital muscular dystrophy OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations