A novel mutation in HINT1 gene causes autosomal recessive axonal neuropathy with neuromyotonia, effective treatment with carbamazepine and review of the literature.

Abstract excerpt

INTRODUCTION: Autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM) is a rare disease entity linked to mutations in the histidine triad nucleotide binding protein 1 (HINT1) gene. The diagnosis and treatment of ARAN-NM are challenging. There have been few reports of ARAN-NM in East Asia. METHODS: A 15-year-old Chinese ARAN-NM patient developed muscle weakness, cramps and atrophy in the lower limbs at...

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