Mutational screening of GDAP1 in dysphonia associated with Charcot-Marie-Tooth disease: clinical insights and phenotypic effects

INTRODUCTION: Mutations in GDAP1 (Ganglioside-induced differentiation-associated protein 1) gene are linked to Charcot-Marie-Tooth disease (CMT), a Heterogenous group of disorders with multiple phenotypes, characterized by peripheral nerve dysfunction that can lead to vocal cord paralysis and diaphr...

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Detalles Bibliográficos
Autores principales: Manzoor, Uzma, Ali, Awais, Ali, S. Luqman, Abdelkarem, Omneya, Kanwal, Sumaira, Alotaibi, Saqer S., Baazeem, Alaa, Baiduissenova, Aliya, Yktiyarov, Ayaz, Hajar, Azraida, Olzhabay, Abay
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10651813/
https://www.ncbi.nlm.nih.gov/pubmed/37966693
http://dx.doi.org/10.1186/s43141-023-00568-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10651813/
https://www.ncbi.nlm.nih.gov/pubmed/37966693
http://dx.doi.org/10.1186/s43141-023-00568-9

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