Maria Balea

Autosomal recessive axonal neuropathy with neuromyotonia in a paediatric patient – a case based review

Abstract Background Autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM) is a distinct clinical and genetic entity within the hereditary peripheral neuropathies (HPN), caused by recessive loss-of-function mutations in the histidine triad nucleotide binding protein 1...