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Abstract：
Autosomal recessive axonal neuropathy with neuromyotonia (ARANNM) is a rare disease caused by mutations of histidine triad nucleotide binding protein 1 (HINT1) gene. ARANNM has been reported mainly in European countries but little reported so far in China. We describe novel mutations of HINT1 in three Chinese patients with ARANNM from unrelated families. Patient 1 was a 14-year-old girl who presented with progressive distal weakness of upper limbs at two years of age. After that, she reported weakness of both feet, and difficulty in muscle relaxation after making a fist. Patient 2 was an 18-year-old boy, who presented with progressive distal weakness of all limbs with foot drop at the age of ten with loss of ambulation at age 15. Patient 3 was a 26-year-old man who had been afflicted with weakness and atrophy of distal lower limbs since the age of 16 complaining about muscle stiffness of the lower limbs when standing and walking, and contraction of finger flexion muscles when releasing a forced grip. Electrodiagnostic testing revealed an axonal motor or sensorimotor neuropathy with or without myokymic discharges. Sural biopsy showed no pathological changes in patient 1 and mild axonal neuropathies with demyelination in patients 2 and 3. Genetic analysis revealed HINT1 with novel compound heterozygous c.112T > C (p.C38R) and c.171G > C (p.K57N) mutations in patient 1, homozygous c.112T > C (p.C38R) mutation in patient 2, as well as compound heterozygous c.112T > C (p.C38R) and c.98T > C (p.F33S) mutations in patient 3. Our study, for the first time, confirms ARANNM in the Chinese population. These genetic findings can help expand the genotypic spectrum of HINT1 mutations.
摘要：
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