congenital myopathy 4A

Term ID

DOID:0080102

Synonyms

CFTD
congenital fiber-type disproportion

Definition

A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs. https://ghr.nlm.nih.gov/condition/congenital-fiber-type-disproportion

References

OMIM:255310

Ontology

Human Disease ( DOID:0080102 )

Relationships

is a type of: autosomal dominant disease congenital myopathy physical disorder

autosomal dominant disease congenital myopathy physical disorder Show first 5 Terms
has subtype: X-linked congenital myopathy with fiber-type disproportion

X-linked congenital myopathy with fiber-type disproportion Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations