title: Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation.
abstract: Desminopathies represent a subtype of myofibrillar myopathy caused by mutations in the DES gene, which cause myofibril disruption and intracellular inclusions containing desmin and other protein components. Desminopathy mainly involves skeletal and cardiac muscle, separately or together. Both autosomal dominant and autosomal recessive inheritance have been reported. Here, we describe the second family identified to date with an L370P desmin mutation. The disease in this family shows autosomal dominant inheritance with a particular phenotype, where males suffer from sudden death of cardiac origin while females exhibit a more benign myopathy of distal onset and slower progression. Because the only family previously identified with this mutation was limited to one studied patient, the present kindred represents the largest clinical investigation of the phenotype associated with the L370P mutation.
authors.affiliation: Department of Neurology, Hospital Clínico Universitario de Santiago de Compostela, Travesía da Choupana s/n, 15706 Santiago de Compostela, Spain. mariasg@meditex.es
authors.forename: Manuel
authors.initials: M
authors.lastname: Arias
authors.forename: Julio
authors.initials: J
authors.lastname: Pardo
authors.forename: Patricia
authors.initials: P
authors.lastname: Blanco-Arias
authors.forename: María-Jesús
authors.initials: MJ
authors.lastname: Sobrido
authors.forename: Susana
authors.initials: S
authors.lastname: Arias
authors.forename: Dolores
authors.initials: D
authors.lastname: Dapena
authors.forename: Angel
authors.initials: A
authors.lastname: Carracedo
authors.forename: Lev G
authors.initials: LG
authors.lastname: Goldfarb
authors.forename: Carmen
authors.initials: C
authors.lastname: Navarro
mesh_terms: D000328:Adult; D009202:Cardiomyopathies / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D004252:DNA Mutational Analysis; D016757:Death, Sudden, Cardiac / Q000473:pathology; D003893:Desmin / Q000235:genetics*; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D008991:Monitoring, Physiologic / Q000592:standards; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009135:Muscular Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D009154:Mutation / Q000235:genetics*; D009206:Myocardium / Q000378:metabolism / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D012727:Sex Characteristics; D013030:Spain
chemical_list: D003893:Desmin; D005819:Genetic Markers