Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers

By whole-exome sequencing, we found the heterozygous POLG variant c.3542G>A; p.Ser1181Asn in a family of four affected individuals, presenting with a mixed neuro-myopathic phenotype. The variant is located within the active site of polymerase gamma, in a cluster region associated with an autosoma...

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Detalles Bibliográficos
Autores principales: Dohrn, Maike F., Heller, Corina, Zengeler, Diana, Obermaier, Carolin D., Biskup, Saskia, Weis, Joachim, Nikolin, Stefan, Claeys, Kristl G., Schöne, Ulrike, Beijer, Danique, Winter, Natalie, Achenbach, Pascal, Gess, Burkhard, Schulz, Jörg B., Mulahasanovic, Lejla
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8805222/
https://www.ncbi.nlm.nih.gov/pubmed/35101151
http://dx.doi.org/10.1186/s42466-022-00169-w

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