Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization

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 fa...

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Veröffentlicht in:	International journal of molecular sciences 2022-10, Vol.23 (19), p.11995
Hauptverfasser:	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, Vainzof, Mariz
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Biopsy Brazil Consortia Genes Heterogeneity Humans Magnetic resonance imaging Muscle Proteins - genetics Muscle, Skeletal Musculoskeletal system Mutation Myopathies, Nemaline - genetics Myopathy Myotonia Congenita Nemaline myopathy Next-generation sequencing Ostomy Patients Siblings Tracheotomy Ventilators
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