RT Journal Article
T1 Charcot-Marie-Tooth disease due to MORC2 mutations in Spain.
A1 Sivera, Rafael
A1 Lupo, Vincenzo
A1 Frasquet, Marina
A1 Argente-Escrig, Herminia
A1 Alonso-Pérez, Jorge
A1 Díaz-Manera, Jordi
A1 Querol, Luis
A1 Del Mar García-Romero, María
A1 Ignacio Pascual, Samuel
A1 García-Sobrino, Tania
A1 Paradas, Carmen
A1 Francisco Vázquez-Costa, Juan
A1 Muelas, Nuria
A1 Millet, Elvira
A1 Jesús Vílchez, Juan
A1 Espinós, Carmen
A1 Sevilla, Teresa
K1 MORC2
K1 CMT2Z
K1 Charcot-Marie-Tooth disease
K1 Spain
AB MORC2 mutations have been described as a rare cause of axonal Charcot-Marie-Tooth disease (CMT2Z). The aim of this work was to determine the frequency and distribution of these mutations throughout Spain, to provide a comprehensive phenotypical description and, if possible, to establish a genotype-phenotype correlation. Retrospectively, data on patients diagnosed with CMT2Z in Spain were collected and clinical, electrophysiological and muscle imaging information were analysed. Fifteen patients with CMT2Z were identified throughout Spain, seven of them belonging to a single kindred, whilst the rest were sporadic. The most common mutation was p.R252W, and four new mutations were identified. Eleven patients were categorized as having a scapuloperoneal phenotype, with asymmetric muscle weakness, early proximal upper limb involvement and frequent spontaneous muscular activity with distal sensory impairment and pes cavus, whilst two presented with a more classic length dependent sensory motor phenotype. This distinction was corroborated by the distribution of muscle fatty infiltration in muscle imaging. Two other patients were classified as having a neurodevelopmental phenotype consisting in congenital or early onset, delay in motor milestones, and global developmental delay in one of them. Nerve conduction studies revealed an unequivocally axonal neuropathy with frequent spontaneous activity, and serum creatine kinase levels were increased in 50% of the patients. MORC2 mutations are a rare cause of CMT in Spain, but in-depth phenotyping reveals a recognizable phenotypic spectrum that will be clinically relevant for future identification of this disease.
YR 2021
FD 2021-07-18
LK http://hdl.handle.net/10668/18057
UL http://hdl.handle.net/10668/18057
LA en
DS RISalud
RD Apr 7, 2025