Abnormal muscle fiber laminin beta 1

MedGen UID:: 868258
•Concept ID:: C4022650
•: Anatomical Abnormality

Synonym:	Abnormal muscle fibre laminin beta 1

HPO:	HP:0030093

Definition

A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal muscle fiber laminin beta 1

Phenotypic abnormality
- 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 laminin beta 1
        Reduced muscle fiber laminin beta 1

Recent clinical studies

Etiology

A comparative histopathologic and immunohistopathologic evaluation of cremaster muscles from boys with various inguinoscrotal pathologies.

Bingöl-Koloğlu M, Tanyel FC, Akçören Z, Topaloğlu H, Göğüş S, Büyükpamukçu N, Hiçsönmez A
Eur J Pediatr Surg 2001 Apr;11(2):110-5. doi: 10.1055/s-2001-13789. PMID: 11371030

Muscle membrane-skeleton protein changes and histopathological characterization of muscle-eye-brain disease.

Auranen M, Rapola J, Pihko H, Haltia M, Leivo I, Soinila S, Virtanen I, Kalimo H, Anderson LV, Santavuori P, Somer H
Neuromuscul Disord 2000 Jan;10(1):16-23. doi: 10.1016/s0960-8966(99)00066-8. PMID: 10677859

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Clinical prediction guides

Conditional Inactivation of Nf1 and Pten in Schwann Cells Results in Abnormal Neuromuscular Junction Maturation.

Li XX, Zhang SJ, Chiu AP, Lo LH, To JC, Cui HN, Rowlands DK, Keng VW
G3 (Bethesda) 2019 Jan 9;9(1):297-303. doi: 10.1534/g3.118.200795. PMID: 30478082 Free PMC Article

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Abnormal muscle fiber laminin beta 1

Definition

Term Hierarchy

Recent clinical studies

Etiology

Clinical prediction guides

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