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D. G. Kabisova

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Oct 2026

AUTOSOMAL RECESSIVE AXONAL NEUROPATHY WITH NEUROMYOTONIA CAUSED BY A MUTATION IN THE HINT1 GENE: A REPORT OF TWO CLINICAL CASES

Hereditary sensorimotor neuropathies are characterized by high genetic heterogeneity, which complicates their diagnosis. Autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM), associated with mutations in the HINT1 gene, is a rare but clinically recognizable disease. Description of clinical cases is import...

I. Komarova, V. Zykov, A. S. Rubtsova et al. · 0 citations

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