X-linked myotubular myopathy. 33rd ENMC International Workshop Soest. The Netherlands, 9-11 June 1995.
Neuromuscul Disord
; 6(2): 129-32, 1996 Mar.
Article
em En
| MEDLINE
| ID: mdl-8664565
ABSTRACT
The research work presented at this the 2nd Workshop of the International Consortium on X-linked Myotubular Myopathy has clearly shown the benefits to be gained from a multinational research consortium with a common interest in identifying and cloning the MTM1 gene. The clinicians have rapid access to knowledge about the current state of the detailed physical map encompassing the disease gene, which is of particular importance when asked to carry out a linkage-based carrier risk assessment in such families, and the molecular geneticists benefit by having access to a large panel of samples from clinically well-documented XMTM patients, and their families, for the rapid testing of any new potential candidate genes. Strategies for the rapid exchange of information and material between members of the consortium to facilitate the cloning of the MTM gene were generated in the hope that the next Workshop will see the consortium discussing the clinical and histological implications of the mutations found. To this end it was decided to set up a Register, based in Cardiff, of all XMTM patients from whom tissue and DNA samples had been made available to the consortium. A decision was also made to collect samples from the very rare families with possible autosomal MTM for future study.
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Base de dados:
MEDLINE
Assunto principal:
Cromossomo X
/
Ligação Genética
/
Doenças Musculares
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Humans
Idioma:
En
Revista:
Neuromuscul Disord
Assunto da revista:
NEUROLOGIA
Ano de publicação:
1996
Tipo de documento:
Article
País de afiliação:
Reino Unido