Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated...
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype
About this item
Full title
Author / Creator
Malfatti, Edoardo , Lehtokari, Vilma-Lotta , Böhm, Johann , De Winter, Josine M , Schäffer, Ursula , Estournet, Brigitte , Quijano-Roy, Susana , Monges, Soledad , Lubieniecki, Fabiana , Bellance, Remi , Viou, Mai Thao , Madelaine, Angéline , Wu, Bin , Taratuto, Ana Lía , Eymard, Bruno , Pelin, Katarina , Fardeau, Michel , Ottenheijm, Coen A C , Wallgren-Pettersson, Carina , Laporte, Jocelyn and Romero, Norma B
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Nemaline myopathy (NM) is a rare congenital myopathy characterised by hypotonia, muscle weakness, and often skeletal muscle deformities with the presence of nemaline bodies (rods) in the muscle biopsy. The nebulin (NEB) gene is the most commonly mutated and is thought to account for approximately 50% of genetically diagnosed cases of NM. We underto...
Alternative Titles
Full title
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype
Authors, Artists and Contributors
Author / Creator
Lehtokari, Vilma-Lotta
Böhm, Johann
De Winter, Josine M
Schäffer, Ursula
Estournet, Brigitte
Quijano-Roy, Susana
Monges, Soledad
Lubieniecki, Fabiana
Bellance, Remi
Viou, Mai Thao
Madelaine, Angéline
Wu, Bin
Taratuto, Ana Lía
Eymard, Bruno
Pelin, Katarina
Fardeau, Michel
Ottenheijm, Coen A C
Wallgren-Pettersson, Carina
Laporte, Jocelyn
Romero, Norma B
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4234932
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4234932
Other Identifiers
ISSN
2051-5960
E-ISSN
2051-5960
DOI
10.1186/2051-5960-2-44
