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Abnormal muscle fiber merosin expression

MedGen UID:: 868260
•Concept ID:: C4022652
•: Anatomical Abnormality

Synonym:	Abnormal muscle fibre merosin expression

HPO:	HP:0030090

Definition

An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal muscle fiber merosin expression

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 merosin expression
        Absent muscle fiber merosin
        Reduced muscle fiber merosin

Recent clinical studies

Etiology

Satellite cells fail to contribute to muscle repair but are functional in Pompe disease (glycogenosis type II).

Lagalice L, Pichon J, Gougeon E, Soussi S, Deniaud J, Ledevin M, Maurier V, Leroux I, Durand S, Ciron C, Franzoso F, Dubreil L, Larcher T, Rouger K, Colle MA
Acta Neuropathol Commun 2018 Oct 31;6(1):116. doi: 10.1186/s40478-018-0609-y. PMID: 30382921 Free PMC Article

Sequential neuroradiological and neurophysiological studies in a Japanese girl with merosin-deficient congenital muscular dystrophy.

Fujii Y, Sugiura C, Fukuda C, Maegaki Y, Ohno K
Brain Dev 2011 Feb;33(2):140-4. Epub 2010 Mar 19 doi: 10.1016/j.braindev.2010.02.003. PMID: 20303224

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

Brain alterations in the classical form of congenital muscular dystrophy. Clinical and neuroimaging follow-up of 12 cases and correlation with the expression of merosin in muscle.

Trevisan CP, Martinello F, Ferruzza E, Fanin M, Chevallay M, Tomé FM
Childs Nerv Syst 1996 Oct;12(10):604-10. doi: 10.1007/BF00261655. PMID: 8934020

See all (4)

Diagnosis

Cytoskeletal and extracellular matrix alterations in limb girdle muscular dystrophy 2I muscle fibers.

Sabatelli P, Pellegrini C, Faldini C, Merlini L
Neurol India 2012 Sep-Oct;60(5):510-1. doi: 10.4103/0028-3886.103200. PMID: 23135029

Sequential neuroradiological and neurophysiological studies in a Japanese girl with merosin-deficient congenital muscular dystrophy.

Fujii Y, Sugiura C, Fukuda C, Maegaki Y, Ohno K
Brain Dev 2011 Feb;33(2):140-4. Epub 2010 Mar 19 doi: 10.1016/j.braindev.2010.02.003. PMID: 20303224

Immunophenotyping of congenital myopathies: disorganization of sarcomeric, cytoskeletal and extracellular matrix proteins.

van der Ven PF, Jap PH, ter Laak HJ, Nonaka I, Barth PG, Sengers RC, Stadhouders AM, Ramaekers FC
J Neurol Sci 1995 Apr;129(2):199-213. doi: 10.1016/0022-510x(94)00282-s. PMID: 7608737

See all (3)

Prognosis

Satellite cells fail to contribute to muscle repair but are functional in Pompe disease (glycogenosis type II).

Brain alterations in the classical form of congenital muscular dystrophy. Clinical and neuroimaging follow-up of 12 cases and correlation with the expression of merosin in muscle.

Trevisan CP, Martinello F, Ferruzza E, Fanin M, Chevallay M, Tomé FM
Childs Nerv Syst 1996 Oct;12(10):604-10. doi: 10.1007/BF00261655. PMID: 8934020

See all (2)

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

Satellite cells fail to contribute to muscle repair but are functional in Pompe disease (glycogenosis type II).

Brain alterations in the classical form of congenital muscular dystrophy. Clinical and neuroimaging follow-up of 12 cases and correlation with the expression of merosin in muscle.

Trevisan CP, Martinello F, Ferruzza E, Fanin M, Chevallay M, Tomé FM
Childs Nerv Syst 1996 Oct;12(10):604-10. doi: 10.1007/BF00261655. PMID: 8934020

Laminin abnormality in severe childhood autosomal recessive muscular dystrophy.

Yamada H, Tomé FM, Higuchi I, Kawai H, Azibi K, Chaouch M, Roberds SL, Tanaka T, Fujita S, Mitsui T
Lab Invest 1995 Jun;72(6):715-22. PMID: 7783429

Expression of laminin subunits in congenital muscular dystrophy.

Sewry CA, Philpot J, Mahony D, Wilson LA, Muntoni F, Dubowitz V
Neuromuscul Disord 1995 Jul;5(4):307-16. doi: 10.1016/0960-8966(94)00072-h. PMID: 7580244

See all (7)

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Abnormal muscle fiber merosin expression

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

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Reviews

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