Mutations in the Nebulin Gene Associated with Autosomal Recessive Nemaline Myopathy
Mutations in the Nebulin Gene Associated with Autosomal Recessive Nemaline Myopathy
About this item
Full title
Author / Creator
Pelin, Katarina , Hilpela, Pirta , Donner, Kati , Sewry, Caroline , Akkari, Patrick A. , Wilton, Stephen D. , Wattanasirichaigoon, Duangrurdee , Bang, Marie-Louise , Centner, Thomas , Hanefeld, Folker , Odent, Sylvie , Fardeau, Michel , Urtizberea, J. Andoni , Muntoni, Francesco , Dubowitz, Victor , Beggs, Alan H. , Laing, Nigel G. , Labeit, Siegfried , de la Chapelle, Albert and Wallgren-Pettersson, Carina
Publisher
United States: National Academy of Sciences of the United States of America
Journal title
Language
English
Formats
Publication information
Publisher
United States: National Academy of Sciences of the United States of America
Subjects
More information
Scope and Contents
Contents
The congenital nemaline myopathies are rare hereditary muscle disorders characterized by the presence in the muscle fibers of nemaline bodies consisting of proteins derived from the Z disc and thin filament. In a single large Australian family with an autosomal dominant form of nemaline myopathy, the disease is caused by a mutation in the α -tropom...
Alternative Titles
Full title
Mutations in the Nebulin Gene Associated with Autosomal Recessive Nemaline Myopathy
Authors, Artists and Contributors
Author / Creator
Hilpela, Pirta
Donner, Kati
Sewry, Caroline
Akkari, Patrick A.
Wilton, Stephen D.
Wattanasirichaigoon, Duangrurdee
Bang, Marie-Louise
Centner, Thomas
Hanefeld, Folker
Odent, Sylvie
Fardeau, Michel
Urtizberea, J. Andoni
Muntoni, Francesco
Dubowitz, Victor
Beggs, Alan H.
Laing, Nigel G.
Labeit, Siegfried
de la Chapelle, Albert
Wallgren-Pettersson, Carina
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_69601980
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_69601980
Other Identifiers
ISSN
0027-8424
E-ISSN
1091-6490
DOI
10.1073/pnas.96.5.2305
