SPTAN1 mutations in hereditary motor neuropathy.

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  • 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.

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