Term Name: infantile-onset myofibrillar myopathy-2B
Synonyms: fatal infantile hypertonic myofibrillar myopathy, MFM2B
Definition: A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23.
Ontology: Human Disease [DOID:0080309]   ( DOID:0080309 )

Relationships
is a type of: autosomal recessive disease myofibrillar myopathy