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Genetic Variants Associated with HMSN V and VI: Insights from Recent Studies

This study explores various genetic mutations linked to hereditary motor and sensory neuropathy (HMSN) types V and VI. Notable variants, including V273G, R274Q, and others, contribute to the understanding of the genetic basis of these conditions. Previous research by Zhu et al. (2005) and Züchner et al. (2006) highlighted the significance of these mutations in patients presenting with pyramidal signs and optic atrophy. This analysis aims to clarify genotype-phenotype correlations and aid in future diagnostics and treatment strategies.

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Genetic Variants Associated with HMSN V and VI: Insights from Recent Studies

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  1. V273G R274Q Q276R* R280H F284Y E347V K357N H361Y* R364W* M376I T105 M G127V H165D+ T206I* I213T F223L T236M V244M P251A V69F L76P R94W* R94Q R418X* E424G R468H V705I L753fs 103 261 408 433 614 646 724 752 757 GTPase C TM C + HMSN V (with pyramidal signs) (Zhu et al. 2005) * HMSN VI (with optic atrophy) (Züchner et al.2006)

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