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http://purl.uniprot.org/citations/34189813http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/34189813http://www.w3.org/2000/01/rdf-schema#comment"

Background and purpose

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.

Methods

Retrospectively, data on patients diagnosed with CMT2Z in Spain were collected and clinical, electrophysiological and muscle imaging information were analysed.

Results

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.

Conclusions

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."xsd:string
http://purl.uniprot.org/citations/34189813http://purl.org/dc/terms/identifier"doi:10.1111/ene.15001"xsd:string
http://purl.uniprot.org/citations/34189813http://purl.uniprot.org/core/author"Espinos C."xsd:string
http://purl.uniprot.org/citations/34189813http://purl.uniprot.org/core/author"Frasquet M."xsd:string
http://purl.uniprot.org/citations/34189813http://purl.uniprot.org/core/author"Lupo V."xsd:string
http://purl.uniprot.org/citations/34189813http://purl.uniprot.org/core/author"Sevilla T."xsd:string
http://purl.uniprot.org/citations/34189813http://purl.uniprot.org/core/author"Diaz-Manera J."xsd:string
http://purl.uniprot.org/citations/34189813http://purl.uniprot.org/core/author"Muelas N."xsd:string
http://purl.uniprot.org/citations/34189813http://purl.uniprot.org/core/author"Paradas C."xsd:string
http://purl.uniprot.org/citations/34189813http://purl.uniprot.org/core/author"Sivera R."xsd:string
http://purl.uniprot.org/citations/34189813http://purl.uniprot.org/core/author"Querol L."xsd:string
http://purl.uniprot.org/citations/34189813http://purl.uniprot.org/core/author"Garcia-Sobrino T."xsd:string
http://purl.uniprot.org/citations/34189813http://purl.uniprot.org/core/author"Alonso-Perez J."xsd:string
http://purl.uniprot.org/citations/34189813http://purl.uniprot.org/core/author"Argente-Escrig H."xsd:string
http://purl.uniprot.org/citations/34189813http://purl.uniprot.org/core/author"Millet E."xsd:string
http://purl.uniprot.org/citations/34189813http://purl.uniprot.org/core/author"Del Mar Garcia-Romero M."xsd:string
http://purl.uniprot.org/citations/34189813http://purl.uniprot.org/core/author"Francisco Vazquez-Costa J."xsd:string
http://purl.uniprot.org/citations/34189813http://purl.uniprot.org/core/author"Ignacio Pascual S."xsd:string
http://purl.uniprot.org/citations/34189813http://purl.uniprot.org/core/author"Jesus Vilchez J."xsd:string
http://purl.uniprot.org/citations/34189813http://purl.uniprot.org/core/date"2021"xsd:gYear
http://purl.uniprot.org/citations/34189813http://purl.uniprot.org/core/name"Eur J Neurol"xsd:string
http://purl.uniprot.org/citations/34189813http://purl.uniprot.org/core/pages"3001-3011"xsd:string
http://purl.uniprot.org/citations/34189813http://purl.uniprot.org/core/title"Charcot-Marie-Tooth disease due to MORC2 mutations in Spain."xsd:string
http://purl.uniprot.org/citations/34189813http://purl.uniprot.org/core/volume"28"xsd:string
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