“Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy
“Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy
About this item
Full title
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
Mutations in the gene encoding the phosphoinositide phosphatase myotubularin 1 protein (
MTM1
) are usually associated with severe neonatal X-linked myotubular myopathy (XLMTM). However, mutations in
MTM1
have also been recognized as the underlying cause of “atypical” forms of XLMTM in newborn boys, female infants, female manifesting ca...
Alternative Titles
Full title
“Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_swepub_primary_oai_gup_ub_gu_se_108126
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_gup_ub_gu_se_108126
Other Identifiers
ISSN
0001-6322,1432-0533
E-ISSN
1432-0533
DOI
10.1007/s00401-008-0472-1
