I am a
Home I AM A Search Login

Papers of the Week

Papers: 26 Feb 2022 - 4 Mar 2022

2022 Feb 28

J Peripher Nerv Syst

Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy.


Grosz BR, Stevanovski I, Negri S, Ellis M, Barnes S, Reddel S, Vucic S, Nicholson GA, Cortese A, Kumar KR, Deveson IW, Kennerson ML
J Peripher Nerv Syst. 2022 Feb 28.
PMID: 35224818.


Biallelic mutations in sorbitol dehydrogenase (SORD) have been recently identified as a common cause of recessive axonal Charcot-Marie-Tooth neuropathy (CMT2). We aimed to assess a novel long-read sequencing approach to overcome current limitations in SORD neuropathy diagnostics due to the SORD2P pseudogene and the phasing of biallelic mutations in recessive disease.