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obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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NTR: Muscle biopsy: myotubularin absent immunocytochemically (Lab: pathology: biopsies & morphology) #9265

Closed pnrobinson closed 5 months ago

pnrobinson commented 1 year ago

New term request Muscle biopsy: myotubularin absent immunocytochemically (segal_120613183039):

pnrobinson commented 5 months ago

@MickeySegal as far as I can see, this is a research-only assay that is not a current clinical assay. Please reopen if this is not true.

MickeySegal commented 5 months ago

https://www.ncbi.nlm.nih.gov/books/NBK1432/ "Immunologic testing using antibodies specific for myotubularin, the protein encoded by MTM1 [Laporte et al 2001b], can detect the presence or absence of myotubularin in cell lines from affected individuals. In 21/24 males with known pathogenic variants, including some missense variants, no myotubularin was detected on western blot. "