※ PTMD 2.0 database Online Browse Options
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
Reference
Wiki: Autosomal recessive axonal neuropathy with neuromyotonia
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD00605 | P49773 | 3094 | HINT1 | Adenosine 5'-monophosphoramidase HINT1 | Homo sapiens |
