Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization
Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization
About this item
Full title
Author / Creator
Gurgel-Giannetti, Juliana , Souza, Lucas Santos , Yamamoto, Guilherme L , Belisario, Marina , Lazar, Monize , Campos, Wilson , Pavanello, Rita de Cassia M , Zatz, Mayana , Reed, Umbertina , Zanoteli, Edmar , Oliveira, Acary Bulle , Lehtokari, Vilma-Lotta , Casella, Erasmo B , Machado-Costa, Marcela C , Wallgren-Pettersson, Carina , Laing, Nigel G , Nigro, Vincenzo and Vainzof, Mariz
Publisher
Switzerland: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Switzerland: MDPI AG
Subjects
More information
Scope and Contents
Contents
Nemaline myopathy (NM), a structural congenital myopathy, presents a significant clinical and genetic heterogeneity. Here, we compiled molecular and clinical data of 30 Brazilian patients from 25 unrelated families. Next-generation sequencing was able to genetically classify all patients: sixteen families (64%) with mutation in NEB, five (20%) in A...
Alternative Titles
Full title
Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization
Authors, Artists and Contributors
Author / Creator
Souza, Lucas Santos
Yamamoto, Guilherme L
Belisario, Marina
Lazar, Monize
Campos, Wilson
Pavanello, Rita de Cassia M
Zatz, Mayana
Reed, Umbertina
Zanoteli, Edmar
Oliveira, Acary Bulle
Lehtokari, Vilma-Lotta
Casella, Erasmo B
Machado-Costa, Marcela C
Wallgren-Pettersson, Carina
Laing, Nigel G
Nigro, Vincenzo
Vainzof, Mariz
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9569467
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9569467
Other Identifiers
ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms231911995
