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. 2018 Mar;89(3):313-315.
doi: 10.1136/jnnp-2017-315929. Epub 2017 Jul 28.

Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease

Michael Shy  1 , Adriana P Rebelo  2 , Shawna Me Feely  1 , Lisa A Abreu  2 , Feifei Tao  2 , Andrea Swenson  1 , Chelsea Bacon  1 , Stephan Zuchner  2
Affiliations

Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease

Michael Shy et al. J Neurol Neurosurg Psychiatry. 2018 Mar.
No abstract available

Keywords: Genetics; Hmsn (charcot-marie-tooth).

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Conflict of interest statement

Competing interests: None declared.

Figures

Figure 1:
Figure 1:. Bag3 mutation in CMT2 families.
A. Segregation of the P209S variant in two autosomal dominant CMT2 families. B. Diagram depicts position of pathogenic variants (arrow heads) in the BAG3 protein. The IPV (Ile-Pro-Val) motifs are highlighted in pink and the protein domains are represented by the colored boxes (PXXP: proline-rich repeat region, WW (Trp-Trp) region).
See this image and copyright information in PMC

References

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