118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy)

Neuromuscul Disord. 2004 Jun;14(6):387-96. doi: 10.1016/j.nmd.2004.04.002.

Affiliation

¹ Department of Laboratories, Unit of Molecular Medicine, Bambino Gesu' Childrens Hospital, P.za S. Onofrio 4, 00165 Rome, Italy. ebertini@tin.it

PMID: 15145343
DOI: 10.1016/j.nmd.2004.04.002

No abstract available

Publication types

Congress
Research Support, Non-U.S. Gov't

MeSH terms

Bacterial Proteins / genetics
Bacterial Proteins / metabolism
Charcot-Marie-Tooth Disease / genetics
Charcot-Marie-Tooth Disease / metabolism
Chromosomes, Human, X*
Humans
Insulin-Like Growth Factor I / genetics
Insulin-Like Growth Factor I / metabolism
Mutation
Myopathies, Structural, Congenital / congenital*
Myopathies, Structural, Congenital / diagnosis
Myopathies, Structural, Congenital / genetics*
Myopathies, Structural, Congenital / therapy
Netherlands
Protein Tyrosine Phosphatases / genetics
Protein Tyrosine Phosphatases / physiology
Protein Tyrosine Phosphatases, Non-Receptor
Trans-Activators / genetics
Trans-Activators / metabolism

Substances

Bacterial Proteins
MtmR protein, Streptomyces argillaceus
Trans-Activators
Insulin-Like Growth Factor I
Protein Tyrosine Phosphatases
Protein Tyrosine Phosphatases, Non-Receptor
myotubularin