Absent muscle fiber merosin

MedGen UID:: 866708
•Concept ID:: C4021055
•: Finding

Synonyms:	Absent merosin staining in muscle biopsy; Absent muscle fiber laminin alpha 2; Absent muscle fibre laminin alpha 2; Absent muscle fibre merosin

HPO:	HP:0030091

Definition

Lack of merosin protein in the muscle biopsy. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbsent muscle fiber merosin

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 merosin expression
        Absent muscle fiber merosin

Recent clinical studies

Etiology

Characterization of bone marrow stromal cells from multiple myeloma.

Gregoretti MG, Gottardi D, Ghia P, Bergui L, Merico F, Marchisio PC, Caligaris-Cappio F
Leuk Res 1994 Sep;18(9):675-82. doi: 10.1016/0145-2126(94)90067-1. PMID: 7934143

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Diagnosis

Alteration of cystic airway mesenchyme in congenital pulmonary airway malformation.

Jiang Y, Luo Y, Tang Y, Moats R, Warburton D, Zhou S, Lou J, Pryhuber GS, Shi W, Wang LL
Sci Rep 2019 Mar 28;9(1):5296. doi: 10.1038/s41598-019-41777-y. PMID: 30923323 Free PMC Article

Gain and loss of extracellular molecules in sporadic inclusion body myositis and polymyositis--a proteomics-based study.

Doppler K, Lindner A, Schütz W, Schütz M, Bornemann A
Brain Pathol 2012 Jan;22(1):32-40. Epub 2011 Aug 16 doi: 10.1111/j.1750-3639.2011.00510.x. PMID: 21672074 Free PMC Article

Brain MRI features of merosin-negative congenital muscular dystrophy.

Ibrahim Abdulla JK, Vattoth S, Al Tawari AA, Pandey T, Abubacker S
Australas Radiol 2007 Dec;51 Suppl:B221-3. doi: 10.1111/j.1440-1673.2007.01852.x. PMID: 17991069

Congenital muscular dystrophy syndromes distinguished by alkaline and acid phosphatase, merosin, and dystrophin staining.

Connolly AM, Pestronk A, Planer GJ, Yue J, Mehta S, Choksi R
Neurology 1996 Mar;46(3):810-14. doi: 10.1212/wnl.46.3.810. PMID: 8618688

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Therapy

Basement membrane and connective tissue proteins in intestinal mucosa of patients with coeliac disease.

Verbeke S, Gotteland M, Fernández M, Bremer J, Ríos G, Brunser O
J Clin Pathol 2002 Jun;55(6):440-5. doi: 10.1136/jcp.55.6.440. PMID: 12037027 Free PMC Article

Characterization of bone marrow stromal cells from multiple myeloma.

Gregoretti MG, Gottardi D, Ghia P, Bergui L, Merico F, Marchisio PC, Caligaris-Cappio F
Leuk Res 1994 Sep;18(9):675-82. doi: 10.1016/0145-2126(94)90067-1. PMID: 7934143

See all (2)

Prognosis

Congenital muscular dystrophy syndromes distinguished by alkaline and acid phosphatase, merosin, and dystrophin staining.

Connolly AM, Pestronk A, Planer GJ, Yue J, Mehta S, Choksi R
Neurology 1996 Mar;46(3):810-14. doi: 10.1212/wnl.46.3.810. PMID: 8618688

See all (1)

Clinical prediction guides

Extracellular matrix composition significantly influences pancreatic stellate cell gene expression pattern: role of transgelin in PSC function.

Apte MV, Yang L, Phillips PA, Xu Z, Kaplan W, Cowley M, Pirola RC, Wilson JS
Am J Physiol Gastrointest Liver Physiol 2013 Sep 15;305(6):G408-17. Epub 2013 Jul 18 doi: 10.1152/ajpgi.00016.2013. PMID: 23868411

Different impact of ALS on laminin isoforms in human extraocular muscles versus limb muscles.

Liu JX, Brännström T, Andersen PM, Pedrosa-Domellöf F
Invest Ophthalmol Vis Sci 2011 Jul 1;52(7):4842-52. doi: 10.1167/iovs.10-7132. PMID: 21372009

Congenital muscular dystrophy syndromes distinguished by alkaline and acid phosphatase, merosin, and dystrophin staining.

Connolly AM, Pestronk A, Planer GJ, Yue J, Mehta S, Choksi R
Neurology 1996 Mar;46(3):810-14. doi: 10.1212/wnl.46.3.810. PMID: 8618688

Immunohistochemical parameters for the age estimation of human skin wounds. A review.

Betz P
Am J Forensic Med Pathol 1995 Sep;16(3):203-9. doi: 10.1097/00000433-199509000-00003. PMID: 7495259

Aging of the extracellular matrix and its pathology.

Labat-Robert J, Robert L
Exp Gerontol 1988;23(1):5-18. doi: 10.1016/0531-5565(88)90015-0. PMID: 3289958

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