Congenital Myopathy 3 with Rigid Spine (CMYP3)

Alias:

Rigid Spine Syndrome

Eichsfeld Type Congenital Muscular Dystrophy

Rigid Spine Muscular Dystrophy 1

Classic Multiminicore Myopathy

Classic Multiminicore Disease

Classic Mmd

Rsmd1

Mdrs1

Rss

Congenital Merosin-Positive Muscular Dystrophy with Early Spine Rigidity

Desmin-Related Myopathy with Mallory Body-Like Inclusions

Desmin-Related Myopathy with Mallory Bodies

Rigid Spine Congenital Muscular Dystrophy

Early-Onset Desmin-Related Myopathy

Sepn1-Related Myopathy

Cmyp3

Muscular Dystrophy, Congenital, Merosin-Positive, with Early Spine Rigidity

Congenital Muscular Dystrophy Merosin-Positive with Early Spine Rigidity

Muscular Dystrophy, Congenital, Eichsfeld Type, Formerly

Desmin-Related Myopathy with Mallory Bodies, Formerly

Multiminicore Disease, Severe Classic Form, Formerly

Multicore Myopathy, Severe Classic Form, Formerly

Minicore Myopathy, Severe Classic Form, Formerly

Congenital Muscular Dystrophy with Rigid Spine

Myopathy, Congenital, Type 3, with Rigid Spine

Congenital Muscular Dystrophy Eichsfeld Type

Severe Classic Form Multiminicore Disease

Multiminicore Disease Severe Classic Form

Severe Classic Form Multicore Myopathy

Multicore Myopathy Severe Classic Form

Severe Classic Form Minicore Myopathy

Minicore Myopathy Severe Classic Form

Muscular Dystrophy, Rigid Spine, 1

Myopathy, Sepn1-Related

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Congenital Myopathy 3 with Rigid Spine, also known as rigid spine syndrome, is related to muscular dystrophy, congenital, lmna-related and congenital myopathy, and has symptoms including facial paresis and generalized muscle weakness. An important gene associated with Congenital Myopathy 3 with Rigid Spine is SELENON (Selenoprotein N), and among its related pathways/superpathways are Cardiac conduction and DREAM Repression and Dynorphin Expression. Affiliated tissues include skeletal muscle and bone, and related phenotypes are scoliosis and respiratory insufficiency

Related ID：

MALACARDS：CNG643

OMIM：602771

MESH：C535683