Term Name: congenital myopathy 4A
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.
Ontology: Human Disease [DOID:0080102]   ( DOID:0080102 )

Relationships
is a type of: autosomal dominant disease congenital myopathy physical disorder
has subtype: X-linked congenital myopathy with fiber-type disproportion