A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres

OBJECTIVE: To identify the genetic cause of complex neuropathy in two siblings from a consanguineous family. METHODS: The patients were recruited from our clinic. Muscle biopsy and whole-exome sequencing (WES) were performed. Fibroblasts cell lines from the index patient, unaffected parents, and thr...

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Detalles Bibliográficos
Autores principales: Gang, Qiang, Bettencourt, Conceição, Holton, Janice, Lovejoy, Christopher, Chelban, Viorica, Oconnor, Emer, Yuan, Yun, Reilly, Mary M., Hanna, Michael, Houlden, Henry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Original Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7419361/
https://www.ncbi.nlm.nih.gov/pubmed/32444983
http://dx.doi.org/10.1007/s00415-020-09827-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7419361/
https://www.ncbi.nlm.nih.gov/pubmed/32444983
http://dx.doi.org/10.1007/s00415-020-09827-y

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