Case report highlights genetic testing importance for diagnosing peripheral neuropathies in underserved regions.
To describe a rare case of Charcot-Marie-Tooth disease type 2F (CMT2F) associated with a pathogenic HSPB1 gene mutation in a Dominican patient, highlighting the clinical presentation, diagnostic challenges, and the importance of genetic testing for peripheral neuropathies in countries with limited access to molecular diagnostics.
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Gomez et al. (2026) studied this question.
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