Literature DB >> 10401686

The Peter Emil Becker Award lecture 1998. The saga of congenital muscular dystrophy.

F M Tomé1.   

Abstract

The first credible descriptions of congenital muscular dystrophy (CMD) were made at the beginning of this century but the individuality of this condition had difficulty to be accepted because its distinction from other types of childhood neuromuscular disorders was far from clear. The reports of different clinico-pathological phenotypes of CMD and recently of immunocytochemical and molecular genetic studies allowed the precise definition of specific entities within the group of CMD. Here we present the historical background of CMD, its vicissitudes and the main steps leading to the individualisation of the merosin-deficient CMD to which the author has contributed. Mention is also made to major achievements in the characterisation of other types of CMD, namely the Fukuyama CMD, the muscle-eye-brain disease and a peculiar form of CMD with the rigidity of the spine. Animal models of merosin-deficient congenital muscular dystrophy were identified and their current study may lead to a better understanding of the pathogenesis of the human disease and to therapeutic strategies.

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Year:  1999        PMID: 10401686     DOI: 10.1055/s-2007-973461

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN: 0174-304X            Impact factor:   1.947


  4 in total

1.  Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.

Authors:  Ercan Demir; Patrizia Sabatelli; Valérie Allamand; Ana Ferreiro; Behzad Moghadaszadeh; Mohamed Makrelouf; Haluk Topaloglu; Bernard Echenne; Luciano Merlini; Pascale Guicheney
Journal:  Am J Hum Genet       Date:  2002-04-24       Impact factor: 11.025

2.  Merosin-deficient congenital muscular dystrophy (CMD): a study of 25 Brazilian patients using MRI.

Authors:  Claudia C Leite; Leandro T Lucato; Maria G M Martin; Lucio G Ferreira; Maria B D Resende; Mary S Carvalho; Suely K N Marie; J Randy Jinkins; Umbertina C Reed
Journal:  Pediatr Radiol       Date:  2005-03-05

Review 3.  Our trails and trials in the subsarcolemmal cytoskeleton network and muscular dystrophy researches in the dystrophin era.

Authors:  Eijiro Ozawa
Journal:  Proc Jpn Acad Ser B Phys Biol Sci       Date:  2010       Impact factor: 3.493

4.  Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases.

Authors:  Isabelle Nelson; Tanya Stojkovic; Valérie Allamand; France Leturcq; Henri-Marc Bécane; Dominique Babuty; Annick Toutain; Christophe Béroud; Pascale Richard; Norma B Romero; Bruno Eymard; Rabah Ben Yaou; Gisèle Bonne
Journal:  J Neuromuscul Dis       Date:  2015-09-02
  4 in total

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