Cargando…
Novel mutations in the SGCA gene in unrelated Vietnamese patients with limb-girdle muscular dystrophies disease
Background: Limb-girdle muscular dystrophy (LGMD) is a group of inherited neuromuscular disorders characterized by atrophy and weakness in the shoulders and hips. Over 30 subtypes have been described in five dominant (LGMD type 1 or LGMDD) and 27 recessive (LGMD type 2 or LGMDR). Each subtype involv...
Autores principales: | Chung Tran, Nam, Lien, Nguyen Thi Kim, Ta, Thanh Dat, Nguyen, Van Hung, Tran, Huy Thinh, Van Tung, Nguyen, Xuan, Nguyen Thi, Huy Hoang, Nguyen, Tran, Van Khanh |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10611451/ https://www.ncbi.nlm.nih.gov/pubmed/37900180 http://dx.doi.org/10.3389/fgene.2023.1248338 |
Ejemplares similares
-
Merosin-deficient congenital muscular dystrophy type 1a: detection of LAMA2 variants in Vietnamese patients
por: Tran, Van Khanh, et al.
Publicado: (2023) -
Targeted next‐generation sequencing determined a novel SGCG variant that is associated with limb‐girdle muscular dystrophy type 2C: A case report
por: Tran, Nam‐Chung, et al.
Publicado: (2023) -
Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease
por: Huong, Nguyen Thi Mai, et al.
Publicado: (2018) -
The first Vietnamese patient who presented late onset of pantothenate kinase-associated neurodegeneration diagnosed by whole exome sequencing: A case report
por: Tran, Van Khanh, et al.
Publicado: (2023) -
A case of response to combination treatment with autologous immunotherapy and bevacizumab in advanced non-small cell lung cancer
por: Nguyen, Thuy Mau Thi, et al.
Publicado: (2022)