Metadata | |
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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 | |
Synonyms |
fatal infantile hypertonic myofibrillar myopathy [EXACT] MFM2B [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |