Reduced muscle fiber lamin A/C

MedGen UID:: 868229
•Concept ID:: C4022621
•: Finding

Synonym:	Reduced muscle fibre lamin A/C

HPO:	HP:0030124

Definition

A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry or Western blotting of muscle tissue. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVReduced muscle fiber lamin A/C

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 lamin A/C
        Reduced muscle fiber lamin A/C

Recent clinical studies

Etiology

Human myogenic reserve cells are quiescent stem cells that contribute to muscle regeneration after intramuscular transplantation in immunodeficient mice.

Laumonier T, Bermont F, Hoffmeyer P, Kindler V, Menetrey J
Sci Rep 2017 Jun 14;7(1):3462. doi: 10.1038/s41598-017-03703-y. PMID: 28615691 Free PMC Article

Embryonic senescence and laminopathies in a progeroid zebrafish model.

Koshimizu E, Imamura S, Qi J, Toure J, Valdez DM Jr, Carr CE, Hanai J, Kishi S
PLoS One 2011 Mar 30;6(3):e17688. doi: 10.1371/journal.pone.0017688. PMID: 21479207 Free PMC Article

See all (2)

Diagnosis

Ku70 regulates Bax-mediated pathogenesis in laminin-alpha2-deficient human muscle cells and mouse models of congenital muscular dystrophy.

Vishnudas VK, Miller JB
Hum Mol Genet 2009 Dec 1;18(23):4467-77. Epub 2009 Aug 19 doi: 10.1093/hmg/ddp399. PMID: 19692349 Free PMC Article

Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations.

Sewry CA, Brown SC, Mercuri E, Bonne G, Feng L, Camici G, Morris GE, Muntoni F
Neuropathol Appl Neurobiol 2001 Aug;27(4):281-90. doi: 10.1046/j.0305-1846.2001.00323.x. PMID: 11532159

See all (2)

Clinical prediction guides

Prelamin A-mediated recruitment of SUN1 to the nuclear envelope directs nuclear positioning in human muscle.

Mattioli E, Columbaro M, Capanni C, Maraldi NM, Cenni V, Scotlandi K, Marino MT, Merlini L, Squarzoni S, Lattanzi G
Cell Death Differ 2011 Aug;18(8):1305-15. Epub 2011 Feb 11 doi: 10.1038/cdd.2010.183. PMID: 21311568 Free PMC Article

Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy.

Cenni V, Sabatelli P, Mattioli E, Marmiroli S, Capanni C, Ognibene A, Squarzoni S, Maraldi NM, Bonne G, Columbaro M, Merlini L, Lattanzi G
J Med Genet 2005 Mar;42(3):214-20. doi: 10.1136/jmg.2004.026112. PMID: 15744034 Free PMC Article

Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation.

Reichart B, Klafke R, Dreger C, Krüger E, Motsch I, Ewald A, Schäfer J, Reichmann H, Müller CR, Dabauvalle MC
BMC Cell Biol 2004 Mar 30;5:12. doi: 10.1186/1471-2121-5-12. PMID: 15053843 Free PMC Article

Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations.

Sewry CA, Brown SC, Mercuri E, Bonne G, Feng L, Camici G, Morris GE, Muntoni F
Neuropathol Appl Neurobiol 2001 Aug;27(4):281-90. doi: 10.1046/j.0305-1846.2001.00323.x. PMID: 11532159

See all (4)

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Reduced muscle fiber lamin A/C

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

Related information

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