Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients

BACKGROUND: The phenotypic spectrum of Fukutin-related protein (FKRP) mutations is highly variable and comprises of limb girdle muscular dystrophy (LGMD) R9 (previously LGMD 2I) and FKRP related congenital muscular dystrophies. OBJECTIVE: To identify the distinct genotype phenotype pattern in Indian...

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Detalles Bibliográficos
Autores principales: Unnikrishnan, Gopikrishnan, Polavarapu, Kiran, Bardhan, Mainak, Nashi, Saraswati, Vengalil, Seena, Preethish-Kumar, Veeramani, Valasani, Ravi Kiran, Huddar, Akshata, Nishadham, Vikas, Nandeesh, Bevinahalli Nanjegowda, Nalini, Atchayaram
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2023
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10357142/
https://www.ncbi.nlm.nih.gov/pubmed/37154180
http://dx.doi.org/10.3233/JND-221618

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10357142/
https://www.ncbi.nlm.nih.gov/pubmed/37154180
http://dx.doi.org/10.3233/JND-221618

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