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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 19932620 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Dynamin 2 (DNM2)-related dominant centronuclear myopathy is usually a mild disorder, but more severe variants have been associated with mutations affecting the pleckstrin homology (PH) domain of the protein, mainly implicated in different forms of Charcot-Marie-Tooth Disease (CMT).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.