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 |