TRIM32 biallelic defects cause limb-girdle muscular dystrophy R8: identification of two novel mutations and investigation of genotype–phenotype correlation

BACKGROUND: Limb-girdle muscular dystrophy R8 (LGMD R8) is a rare autosomal recessive muscle disease caused by TRIM32 gene biallelic defects. The genotype–phenotype correlation of this disease has been reported poorly. Here, we report a Chinese family with two female LGMD R8 patients. METHODS: We pe...

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Detalles Bibliográficos
Autores principales: Guan, Yuqing, Liang, Xiongda, Li, Wei, Lin, Wanying, Liang, Guanxia, Xie, Hongting, Hou, Yu, Hu, Yafang, Shang, Xuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10201696/
https://www.ncbi.nlm.nih.gov/pubmed/37217920
http://dx.doi.org/10.1186/s13395-023-00319-x

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