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Metadata
ID DOID:0080309
Name infantile-onset myofibrillar myopathy-2B
Definition A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23.
https://www.ncbi.nlm.nih.gov/pubmed/23995273
Xrefs

MIM:613869

Synonyms

fatal infantile hypertonic myofibrillar myopathy [EXACT]

MFM2B [EXACT]

Parent Relationships

is_a myofibrillar myopathy

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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