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

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

Authors

Michael Shy¹, Adriana P Rebelo², Shawna Me Feely¹, Lisa A Abreu², Feifei Tao², Andrea Swenson¹, Chelsea Bacon¹, Stephan Zuchner²

Affiliations

¹ Department of Neurology, University of Iowa, Iowa City, Iowa, USA.
² Department of Human Genetics and Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA.

No abstract available

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

Publication types

Letter
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Adaptor Proteins, Signal Transducing / genetics*
Adult
Apoptosis Regulatory Proteins / genetics*
Charcot-Marie-Tooth Disease / genetics*
Charcot-Marie-Tooth Disease / physiopathology
Electromyography
Exome Sequencing
Female
Humans
Male
Middle Aged
Mutation
Neural Conduction
Pedigree

Substances

Adaptor Proteins, Signal Transducing
Apoptosis Regulatory Proteins
BAG3 protein, human

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