Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation.

Arias, Manuel; Pardo, Julio; Blanco-Arias, Patricia; Sobrido, María-Jesús; Arias, Susana; Dapena, Dolores; Carracedo, Angel; Goldfarb, Lev G; Navarro, Carmen

Arias, Manuel; Pardo, Julio; Blanco-Arias, Patricia; Sobrido, María-Jesús; Arias, Susana; Dapena, Dolores; Carracedo, Angel; Goldfarb, Lev G; Navarro, Carmen.

Affiliation

Arias M; Department of Neurology, Hospital Clínico Universitario de Santiago de Compostela, Travesía da Choupana s/n, 15706 Santiago de Compostela, Spain. mariasg@meditex.es

Neuromuscul Disord ; 16(8): 498-503, 2006 Aug.

Article in En | MEDLINE | ID: mdl-16806931

Subject(s)

Desmin/genetics; Genetic Predisposition to Disease/genetics; Muscular Diseases/genetics; Muscular Diseases/physiopathology; Mutation/genetics; Adult; Cardiomyopathies/diagnosis; Cardiomyopathies/genetics; Cardiomyopathies/physiopathology; DNA Mutational Analysis; Death, Sudden, Cardiac/pathology; Female; Genetic Markers/genetics; Genetic Testing; Humans; Male; Middle Aged; Monitoring, Physiologic/standards; Muscle, Skeletal/metabolism; Muscle, Skeletal/pathology; Muscle, Skeletal/physiopathology; Muscular Diseases/diagnosis; Myocardium/metabolism; Myocardium/pathology; Pedigree; Phenotype; Sex Characteristics; Spain

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Collection: 01-internacional Database: MEDLINE Main subject: Genetic Predisposition to Disease / Desmin / Muscular Diseases / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Male / Middle aged Country/Region as subject: Europa Language: En Journal: Neuromuscul Disord Journal subject: NEUROLOGIA Year: 2006 Type: Article Affiliation country: Spain

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