Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
Maroofian R, Sarraf P, O'Brien TJ, Kamel M, Cakar A, Elkhateeb N, Lau T, Patil SJ, Record CJ, Horga A, Essid M, Selim L, Benrhouma H, Ben Younes T, Zifarelli G, Pagnamenta AT, Bauer P, Khundadze M, Mirecki A, Kamel SM, Elmonem MA, Ghayoor Karimiani E, Jamshidi Y, Offiah AC, Rossor AM, Youssef-Turki IB, Hübner CA, Munot P, Reilly MM, Brown AEX, Nagy S, Houlden H.
Maroofian R, et al.
Brain. 2024 Mar 25:awae091. doi: 10.1093/brain/awae091. Online ahead of print.
Brain. 2024.
PMID: 38527963
Heterozygous RTN2 variants have been previously identified in a limited cohort of families affected by autosomal dominant spastic paraplegia (SPG12-OMIM:604805) with a variable age of onset. ...This phenotype shares similarities with SIGMAR1-related dHMN, and Silver-like s …
Heterozygous RTN2 variants have been previously identified in a limited cohort of families affected by autosomal dominant spastic par …