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Absent muscle fiber emerin

MedGen UID:: 868236
•Concept ID:: C4022628
•: Finding

Synonym:	Absent muscle fibre emerin

HPO:	HP:0030117

Definition

Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbsent muscle fiber emerin

Abnormality of the musculoskeletal system
- Abnormality of the musculature
  - Abnormal skeletal muscle morphology
    - Abnormal muscle fiber morphology
      - Abnormal muscle fiber protein expression
        Abnormal muscle fiber emerin
        Absent muscle fiber emerin

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ClinicalTrials.gov

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