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[The laminopathy saga].
Rev Neurol. 2003 Oct 16-31; 37(8):772-4.RN

Abstract

AIMS

Our aim was to clinically characterise Emery-Dreifuss muscular dystrophy, to differentiate the X-linked forms of inheritance from the forms involving autosomal dominant inheritance, from a genetic point of view, and to describe the phenotypical heterogeneity of mutations in the LMNA gene itself.

DEVELOPMENT

We describe the identification of the mutations in the lamina A/C gene, the LMNA gene, which was made possible thanks to the networks allowing workers in different countries to collaborate. Mutations in this gene are responsible for autosomal dominant Emery-Dreifuss disease, as well as other diseases that are phenotypically very distinct, such as limb girdle muscular dystrophy associated with cardiac conduction defects (LGMD1B), dilated myocardiopathy with conduction defects (DCM-CD), Dunnigan-type familial partial lipodystrophy (FPLD) and, finally, an autosomal recessive form of axonal neuropathy or Charcot-Marie-Tooth disease type 2 (AR-CMT).

CONCLUSIONS

Laminas are intermediate filaments that constitute the inner nuclear membrane of any cell and the mutations in the lamina A/C gene can give rise to such distinct clinical patterns as a kind of muscular dystrophy that is similar to the well known X-linked Emery-Dreifuss disease or a form of Charcot-Marie-Tooth-type neuropathy. Work is currently being conducted on an experimental animal model capable of providing us with a better understanding of the physiopathological mechanisms involved in the production of these tissue-specific diseases, although they are due to mutations in a gene that codifies for proteins that are expressed all over.

Authors+Show Affiliations

Inserm U523, Institut de Myologie, GH Pitié-Salpétrière, Paris, Francia.

Pub Type(s)

English Abstract
Journal Article
Review

Language

spa

PubMed ID

14593639

Citation

Bonne, G. "[The Laminopathy Saga]." Revista De Neurologia, vol. 37, no. 8, 2003, pp. 772-4.
Bonne G. [The laminopathy saga]. Rev Neurol. 2003;37(8):772-4.
Bonne, G. (2003). [The laminopathy saga]. Revista De Neurologia, 37(8), 772-4.
Bonne G. [The Laminopathy Saga]. Rev Neurol. 2003 Oct 16-31;37(8):772-4. PubMed PMID: 14593639.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [The laminopathy saga]. A1 - Bonne,G, PY - 2003/11/1/pubmed PY - 2004/4/14/medline PY - 2003/11/1/entrez SP - 772 EP - 4 JF - Revista de neurologia JO - Rev Neurol VL - 37 IS - 8 N2 - AIMS: Our aim was to clinically characterise Emery-Dreifuss muscular dystrophy, to differentiate the X-linked forms of inheritance from the forms involving autosomal dominant inheritance, from a genetic point of view, and to describe the phenotypical heterogeneity of mutations in the LMNA gene itself. DEVELOPMENT: We describe the identification of the mutations in the lamina A/C gene, the LMNA gene, which was made possible thanks to the networks allowing workers in different countries to collaborate. Mutations in this gene are responsible for autosomal dominant Emery-Dreifuss disease, as well as other diseases that are phenotypically very distinct, such as limb girdle muscular dystrophy associated with cardiac conduction defects (LGMD1B), dilated myocardiopathy with conduction defects (DCM-CD), Dunnigan-type familial partial lipodystrophy (FPLD) and, finally, an autosomal recessive form of axonal neuropathy or Charcot-Marie-Tooth disease type 2 (AR-CMT). CONCLUSIONS: Laminas are intermediate filaments that constitute the inner nuclear membrane of any cell and the mutations in the lamina A/C gene can give rise to such distinct clinical patterns as a kind of muscular dystrophy that is similar to the well known X-linked Emery-Dreifuss disease or a form of Charcot-Marie-Tooth-type neuropathy. Work is currently being conducted on an experimental animal model capable of providing us with a better understanding of the physiopathological mechanisms involved in the production of these tissue-specific diseases, although they are due to mutations in a gene that codifies for proteins that are expressed all over. SN - 0210-0010 UR - https://www.unboundmedicine.com/medline/citation/14593639/[The_laminopathy_saga]_ L2 - http://www.revneurol.com/LinkOut/formMedLine.asp?Refer=2003272&Revista=Revneurol DB - PRIME DP - Unbound Medicine ER -
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