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Abnormal muscle fiber lamin A/C

MedGen UID:: 868230
•Concept ID:: C4022622
•: Anatomical Abnormality

Synonym:	Abnormal muscle fibre lamin A/C

HPO:	HP:0030123

Definition

A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal muscle fiber lamin A/C

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 lamin A/C
        Reduced muscle fiber lamin A/C

Recent clinical studies

Etiology

Pathogenesis of aortic wall complications in Marfan syndrome.

Grewal N, Gittenberger-de Groot AC
Cardiovasc Pathol 2018 Mar-Apr;33:62-69. Epub 2018 Feb 2 doi: 10.1016/j.carpath.2018.01.005. PMID: 29433109

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

Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.

Tazir M, Azzedine H, Assami S, Sindou P, Nouioua S, Zemmouri R, Hamadouche T, Chaouch M, Feingold J, Vallat JM, Leguern E, Grid D
Brain 2004 Jan;127(Pt 1):154-63. Epub 2003 Nov 7 doi: 10.1093/brain/awh021. PMID: 14607793

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.

De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Lévy N
Am J Hum Genet 2002 Mar;70(3):726-36. Epub 2002 Jan 17 doi: 10.1086/339274. PMID: 11799477 Free PMC Article

See all (4)

Diagnosis

Emery-Dreifuss Muscular Dystrophy-Associated Mutant Forms of Lamin A Recruit the Stress Responsive Protein Ankrd2 into the Nucleus, Affecting the Cellular Response to Oxidative Stress.

Angori S, Capanni C, Faulkner G, Bean C, Boriani G, Lattanzi G, Cenni V
Cell Physiol Biochem 2017;42(1):169-184. Epub 2017 May 25 doi: 10.1159/000477309. PMID: 28531892

A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement.

Hattori A, Komaki H, Kawatani M, Sakuma H, Saito Y, Nakagawa E, Sugai K, Sasaki M, Hayashi YK, Nonaka I, Nishino I
Neuromuscul Disord 2012 Feb;22(2):149-51. Epub 2012 Jan 11 doi: 10.1016/j.nmd.2011.08.009. PMID: 22240398

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 (3)

Prognosis

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.

Ben Yaou R, Navarro C, Quijano-Roy S, Bertrand AT, Massart C, De Sandre-Giovannoli A, Cadiñanos J, Mamchaoui K, Butler-Browne G, Estournet B, Richard P, Barois A, Lévy N, Bonne G
Eur J Hum Genet 2011 Jun;19(6):647-54. Epub 2011 Jan 26 doi: 10.1038/ejhg.2010.256. PMID: 21267004 Free PMC Article

Severe dilated cardiomyopathy and quadriceps myopathy due to lamin A/C gene mutation: a phenotypic study.

Charniot JC, Desnos M, Zerhouni K, Bonnefont-Rousselot D, Albertini JP, Salama JZ, Bassez G, Komajda M, Artigou JY
Eur J Heart Fail 2006 May;8(3):249-56. Epub 2005 Nov 28 doi: 10.1016/j.ejheart.2005.08.007. PMID: 16314145

Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.

See all (3)

Clinical prediction guides

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.

LMNA mutations, skeletal muscle lipid metabolism, and insulin resistance.

Boschmann M, Engeli S, Moro C, Luedtke A, Adams F, Gorzelniak K, Rahn G, Mähler A, Dobberstein K, Krüger A, Schmidt S, Spuler S, Luft FC, Smith SR, Schmidt HH, Jordan J
J Clin Endocrinol Metab 2010 Apr;95(4):1634-43. Epub 2010 Feb 3 doi: 10.1210/jc.2009-1293. PMID: 20130076 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 (3)

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Abnormal muscle fiber lamin A/C

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

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Reviews

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