Whole Exome Sequencing Revealed a Novel GJB1 Pathogenic Variant and a Rare BSCL2 Mutation in Two Iranian Large Pedigrees with Multiple Affected Cases of Charcot-Marie-Tooth

Charcot-Marie-Tooth disease (CMT) is the most common hereditary neuropathy of the peripheral nervous system with a wide range of severity and age of onset. CMT patients share similar phenotypes which make it often impossible to identify the disease types based on clinical presentation and electrophy...

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Detalles Bibliográficos
Autores principales: Mohsenpour, Neda, Roknizadeh, Hassan, Maghbooli, Mehdi, Changi-Ashtiani, Majid, Shahrooei, Mohammad, Salehi, Mansoor, Behnam, Mahdiyeh, Shahani, Tina, Biglari, Alireza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Babol University of Medical Sciences 2019
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7241839/
https://www.ncbi.nlm.nih.gov/pubmed/32489946
http://dx.doi.org/10.22088/IJMCM.BUMS.8.3.169

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