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Browse result for Autosomal recessive axonal neuropathy with neuromyotonia

※ introduction

    Autosomal recessive axonal neuropathy with neuromyotonia, also known as Gamstorp-Wohlfart syndrome, is a rare hereditary disorder which is characterized by progressive poly-neuropathy, neuromyotonia, myokymia, pseudo-myotonia, hand-foot contractures, and abnormal neuro-myotonic/myokimic activity visible on needle EMG. According to OMIM, around 52 cases have been reported in medical literature However; new cases (mostly from Europe and North America) have been reported since 2014.

Reference
Wiki: Autosomal recessive axonal neuropathy with neuromyotonia



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD00605P497733094
HINT1
Adenosine 5'-monophosphoramidase HINT1
Homo sapiens