INC: Expanding the Phenotype of CRYAB-Related Disease to Include Charcot–Marie

INC: Expanding the Phenotype of CRYAB-Related Disease to Include Charcot–Marie–Tooth Disease Type 2

14 de nov. de 2023 · 1m 42s

Descripción

New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the European Journal of Neurology on September 29, 2023, titled "Mutations in alpha-B-crystallin...

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New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the European Journal of Neurology on September 29, 2023, titled "Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts."

Read the paper here: https://onlinelibrary.wiley.com/doi/10.1111/ene.16063

Learn more about INC: https://inc.rarediseasesnetwork.org

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