A novel mutation in the LRSAM1 gene in a family with early onset autosomal dominant Charcot-Marie-Tooth type 2 P
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),General Medicine,Surgery
Reference6 articles.
1. Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease;Cortese;Neurology,2020
2. 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping;Nambot;Eur J Hum Genet,2016
3. LRSAM1 and the RING domain: Charcot–Marie–Tooth disease and beyond;Palaima;Orphanet J Rare Dis,2021
4. Location matters – Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P;Reilich;Neuromuscular Disorders,2021
5. Reliability of the CMT neuropathy score (second version) in Charcot‐Marie‐Tooth disease;Murphy;J Peripheral Nervous Sys,2011
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