Publications:

New evidence for secondary axonal degeneration in demyelinating neuropathies.

Neuroscience Letters

Moss, Kathryn R KR; Bopp, Taylor S TS; Johnson, Anna E AE; Höke, Ahmet A

Publication Date: 2021-01-23

Variant appearance in text: GJB1: C179G

PubMed Link: 33359733

Variant Present in the following documents:

• Main text

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Mild form of Charcot-Marie-Tooth type 1X disease caused by a novel Cys179Gly mutation in the GJB1/Cx32 gene.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology

Moszyńka, I I; Kabzińska, D D; Kochański, A A

Publication Date: 2009-10

Variant appearance in text: GJB1: 535T>G

PubMed Link: 20128140

Variant Present in the following documents:

• Main text

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