ARAN-NM

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Tang, P. ARAN-NM. Encyclopedia. Available online: https://encyclopedia.pub/entry/6038 (accessed on 20 September 2026).

Tang P. ARAN-NM. Encyclopedia. Available at: https://encyclopedia.pub/entry/6038. Accessed September 20, 2026.

Tang, Peter. "ARAN-NM" Encyclopedia, https://encyclopedia.pub/entry/6038 (accessed September 20, 2026).

Tang, P. (2021, January 04). ARAN-NM. In Encyclopedia. https://encyclopedia.pub/entry/6038

Tang, Peter. "ARAN-NM." Encyclopedia. Web. 04 January, 2021.

ARAN-NM

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia

Autosomal recessive axonal neuropathy with neuromyotonia is a disorder that affects the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound.

genetic conditions

References

Caetano JS, Costa C, Baets J, Zimon Phd M, Venâncio Phd M, Saraiva Phd J,Negrão L, Fineza I. Autosomal recessive axonal neuropathy with neuromyotonia: arare entity. Pediatr Neurol. 2014 Jan;50(1):104-7. doi:10.1016/j.pediatrneurol.2013.08.028.
Zhao H, Race V, Matthijs G, De Jonghe P, Robberecht W, Lambrechts D, Van DammeP. Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motorneuropathy. Eur J Hum Genet. 2014 Jun;22(6):847-50. doi: 10.1038/ejhg.2013.231.
Zhou X, Chou TF, Aubol BE, Park CJ, Wolfenden R, Adams J, Wagner CR. Kineticmechanism of human histidine triad nucleotide binding protein 1. Biochemistry.2013 May 21;52(20):3588-600. doi: 10.1021/bi301616c.
Zimoń M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y,Battaloğlu E, Matur Z, Guergueltcheva V, Tournev I, Auer-Grumbach M, De Rijk P,Petersen BS, Müller T, Fransen E, Van Damme P, Löscher WN, Barišić N, Mitrovic Z,Previtali SC, Topaloğlu H, Bernert G, Beleza-Meireles A, Todorovic S,Savic-Pavicevic D, Ishpekova B, Lechner S, Peeters K, Ooms T, Hahn AF, Züchner S,Timmerman V, Van Dijck P, Rasic VM, Janecke AR, De Jonghe P, Jordanova A.Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.Nat Genet. 2012 Oct;44(10):1080-3. doi: 10.1038/ng.2406.

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Subjects: Genetics & Heredity

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Update Date: 04 Jan 2021

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