Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms

BACKGROUND: Rare variants (RV) in immunoglobulin mu‐binding protein 2 (IGHMBP2) [OMIM 600502] can cause an autosomal recessive type of Charcot‐Marie‐Tooth (CMT) disease [OMIM 616155], an inherited peripheral neuropathy. Over 40 different genes are associated with CMT, with different possible inherit...

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Detalles Bibliográficos
Autores principales: Cassini, Thomas A., Duncan, Laura, Rives, Lynette C., Newman, John H., Phillips, John A., Koziura, Mary E., Brault, Jennifer, Hamid, Rizwan, Cogan, Joy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565564/
https://www.ncbi.nlm.nih.gov/pubmed/31020813
http://dx.doi.org/10.1002/mgg3.676

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