Author

A. S. Rubtsova

1 paper indexed here

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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

When a child presents with distal muscle weakness, neuromyotonia, and elevated CPK, ARAN-NM should be considered, and the p.Arg37Pro mutation in the HINT1 gene in a homozygous state should be considered.

I. Komarova, V. Zykov, A. S. Rubtsova et al. · PEDIATRIA Journal named afte... · 0 citations