Article supports pathogenicity of SIGMAR1 variant, suggesting genetic testing is vital for hereditary motor neuropathies.
This article supports the pathogenicity of the c.247T>C (p.Phe83Leu) SIGMAR1 variant and underlines the need for broader genetic testing in hereditary motor neuropathies.
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Potulska‐Chromik et al. (2025) studied this question.
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