Novel mutations in HINT1 gene cause autosomal recessive axonal neuropathy with neuromyotonia in two cases of sensorimotor neuropathy and one case of motor neuropathy
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DOI: 10.1016/j.nmd.2018.05.003
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… read more here.
Keywords: axonal neuropathy; novel mutations; hint1 gene; autosomal recessive ... See more keywords