myofibrillar myopathy 1

Term ID

DOID:0080092

Synonyms

autosomal recessive limb-girdle muscular dystrophy type 2R
desminopathy

Definition

A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35. https://www.ncbi.nlm.nih.gov/pubmed/23687351

References

ICD10CM:G71.0
MIM:601419
ORDO:363543

Ontology

Human Disease ( DOID:0080092 )

Relationships

is a type of: autosomal dominant disease autosomal recessive disease myofibrillar myopathy

autosomal dominant disease autosomal recessive disease myofibrillar myopathy Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models