Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation
European Journal of Neurology2020Vol. 28(4), pp. 1334–1343
Citations Over TimeTop 10% of 2020 papers
Marina Frasquet, Ricard Rojas‐García, Herminia Argente‐Escrig, Juan F. Vázquez‐Costa, Nuria Muelas, Juan J. Vílchez, Rafael Sivera, Elvira Millet, Marisa Barreiro, Jordi Díaz‐Manera, Janina Turón‐Sans, Elena Cortés‐Vicente, Luís Querol, Laura Ramírez‐Jiménez, Dolores Martínez‐Rubio, Ana Sánchez‐Monteagudo, Carmen Espinós, Teresa Sevilla, Vincenzo Lupo
Abstract
This study confirms the genetic heterogeneity of dHMN and that biallelic SORD mutations are a cause of dHMN in different populations.
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