Abstract：
Autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM) is a rare form of hereditary neuropathy. Mutations in HINT1 gene have been identified to be the cause of this disorder. We report two unrelated patients who presented gait impairment, progressive distal muscle weakness and atrophy, neuromyotonia and foot deformities. Electrophysiological studies showed axonal motor neuropathy and neuromyotonic discharges. Using Next-generation sequencing, we identified two homozygous mutations, NM_005340.6: c.112T > C; p.(Cys38Arg) and NM_005340.6: c.289G > A; p.(Val97Met) in HINT1 gene. Based on the clinical presentation and molecular genetic analyses, ARAN-NM was diagnosed in both patients and NM_005340.6: c.112T > C; p.(Cys38Arg) and NM_005340.6: c.289G > A; p.(Val97Met) in HINT1 gene were believe to be causative for the disorder.
摘要：
常染色体隐性遗传性轴索性神经病伴神经肌强直（ARAN-NM）是一种罕见的遗传性神经病。HINT1基因的突变已被确定为这种疾病的原因。我们报告了两名出现步态障碍的无关患者，进行性远端肌肉无力和萎缩，神经肌强直和足部畸形。电生理研究显示轴索运动神经病和神经肌强直放电。使用下一代测序，我们发现了两个纯合突变,HINT1基因中NM_005340.6:c.112T>C;p.(Cys38Arg)和NM_005340.6:c.289G>A;p.(Val97Met)。根据临床表现和分子遗传学分析，ARAN-NM在两个患者中均被诊断出，并且NM_005340.6：c.112T>C;p。（Cys38Arg）和NM_005340.6：c.289G>A;p。（Val97Met）在HINT1基因中被认为是该疾病的病因。
