Reduced muscle fiber perlecan

MedGen UID:: 868231
•Concept ID:: C4022623
•: Finding

Synonym:	Reduced muscle fibre perlecan

HPO:	HP:0030122

Definition

Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2). [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Reduced muscle fiber perlecan

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormality of the musculature
    - Abnormal skeletal muscle morphology
      - Abnormal muscle fiber morphology
        Abnormal muscle fiber protein expression
        Reduced muscle fiber perlecan

Recent clinical studies

Therapy

Glomerular expression of dystroglycans is reduced in minimal change nephrosis but not in focal segmental glomerulosclerosis.

Regele HM, Fillipovic E, Langer B, Poczewki H, Kraxberger I, Bittner RE, Kerjaschki D
J Am Soc Nephrol 2000 Mar;11(3):403-412. doi: 10.1681/ASN.V113403. PMID: 10703664

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Reduced muscle fiber perlecan

Definition

Term Hierarchy

Recent clinical studies

Therapy

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