An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phen...
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families
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Author / Creator
Juntas Morales, Raul , Perrin, Aurélien , Solé, Guilhem , Lacourt, Delphine , Pegeot, Henri , Walther-Louvier, Ulrike , Cintas, Pascal , Cances, Claude , Espil, Caroline , Theze, Corinne , Zenagui, Reda , Yauy, Kevin , Cosset, Elodie , Renard, Dimitri , Rigau, Valerie , Maues de Paula, Andre , Uro-Coste, Emmanuelle , Arne-Bes, Marie-Christine , Martin Négrier, Marie-Laure , Leboucq, Nicolas , Acket, Blandine , Malfatti, Edoardo , Biancalana, Valérie , Metay, Corinne , Richard, Pascale , Rendu, John , Rivier, François , Koenig, Michel and Cossée, Mireille
Publisher
Switzerland: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Switzerland: MDPI AG
Subjects
More information
Scope and Contents
Contents
Diagnosis of myopathies is challenged by the high genetic heterogeneity and clinical overlap of the various etiologies. We previously reported a Next-Generation Sequencing strategy to identify genetic etiology in patients with undiagnosed Limb-Girdle Muscular Dystrophies, Congenital Myopathies, Congenital Muscular Dystrophies, Distal Myopathies, My...
Alternative Titles
Full title
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families
Authors, Artists and Contributors
Author / Creator
Perrin, Aurélien
Solé, Guilhem
Lacourt, Delphine
Pegeot, Henri
Walther-Louvier, Ulrike
Cintas, Pascal
Cances, Claude
Espil, Caroline
Theze, Corinne
Zenagui, Reda
Yauy, Kevin
Cosset, Elodie
Renard, Dimitri
Rigau, Valerie
Maues de Paula, Andre
Uro-Coste, Emmanuelle
Arne-Bes, Marie-Christine
Martin Négrier, Marie-Laure
Leboucq, Nicolas
Acket, Blandine
Malfatti, Edoardo
Biancalana, Valérie
Metay, Corinne
Richard, Pascale
Rendu, John
Rivier, François
Koenig, Michel
Cossée, Mireille
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8392536
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8392536
Other Identifiers
ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes12081199
