Novel mutations in HINT1 gene cause autosomal recessive axonal neuropathy with neuromyotonia in Chinese patients.

Hereditary peripheral neuropathies comprise a heterogeneous spectrum of disorders, for which more than 100 different subtypes have been identified, with each having its own specific clinical characteristics, pathophysiology and prognosis [1,2]. In addition to length dependent neuropathies, there were several types of hereditary peripheral neuropathies with unusual symptoms, such as the central nerve system involvement in X-linked Charcot-Marie-Tooth disease [3,4], focal segmental glomerulosclerosis in INF2 mutations associated with dominant inherited intermediate Charcot-Marie-Tooth neuropathy [5], cardiomyopathy in hereditary transthyretin amyloidosis [6], C12orf65 gene related distal motor neuropathy with optic atrophy [7].
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research