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Metadata
DOID DOID:0080309
Name fatal infantile hypertonic myofibrillar myopathy
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, https://www.omim.org/entry/613869
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OMIM:613869

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is_a myofibrillar myopathy

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