Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies
About this item
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Author / Creator
Publisher
Berlin/Heidelberg: Springer-Verlag
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer-Verlag
Subjects
More information
Scope and Contents
Contents
Myotubular myopathy and centronuclear myopathies (CNM) are congenital myopathies characterized by generalized muscle weakness and mislocalization of muscle fiber nuclei. Genetically distinct forms exist, and mutations in
BIN1
were recently identified in autosomal recessive cases (ARCNM). Amphiphysins have been implicated in membrane remodelin...
Alternative Titles
Full title
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_swepub_primary_oai_gup_ub_gu_se_135906
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_gup_ub_gu_se_135906
Other Identifiers
ISSN
0001-6322,1432-0533
E-ISSN
1432-0533
DOI
10.1007/s00401-010-0754-2
