SPTAN1 mutations in hereditary motor neuropathy.

Lesen Sie diesen Artikel auf Deutsch.

Takeaway

  • Inherited SPTAN1 nonsense mutations and partial loss of alpha-II-spectrin is a causal mechanism for the axonal degeneration in hereditary motor neuropathy (HMN).

Why this matters

  • The complexity of the multifaceted genetics implicated in HMN is not fully understood; further investigation is required to understand the underlying mechanisms linking different genetic mutations with phenotypic variability.

Möchten Sie mehr lesen?

Loggen Sie sich ein oder registrieren Sie sich, um Zugang zu allen Inhalten von Neurodiem zu erhalten.

Sie haben bereits einen Account? Einloggen

International Medical Press is a global provider of independent medical education. Its mission is to provide healthcare professionals with high-quality, trusted medical information with the aim of helping optimize patient care.

No responsibility is assumed by International Medical Press for any injury and/or damage to persons or property through negligence or otherwise, or from any use or operation of any methods, products, instructions, or ideas contained in the material herein. Because of rapid advances in the medical sciences, International Medical Press recommends that independent verification of diagnoses and drug dosages should be made. The opinions expressed do not reflect those of International Medical Press or the sponsor. International Medical Press assumes no liability for any material contained herein.