Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene

European Journal of Medical Genetics

Volumn 50, Issue 5, 2007, Pages 355-366

  Bergman, Jorieke E H ^a   Veenstra Knol, Hermine E ^a   van Essen, Anthonie J ^a   van Ravenswaaij, Conny M A ^a   den Dunnen, Wilfred F A ^a   van den Wijngaard, Arthur ^b   Peter van Tintelen, J ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Desmin; Desmin related myopathy; Dilated cardiomyopathy; Heart block; Limb girdle muscular dystrophy; Myopathy

Indexed keywords

DESMIN; PROTEIN P62;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONGESTIVE CARDIOMYOPATHY; FAMILY STRESS; FEMALE; GENE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MYOPATHY; NETHERLANDS; NUCLEOTIDE SEQUENCE; PEDIGREE;

ADULT; AGED; AMINO ACID SUBSTITUTION; CARDIOMYOPATHY, DILATED; DESMIN; FEMALE; GENES, DOMINANT; HUMANS; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION, MISSENSE; NETHERLANDS; PEDIGREE; PHENOTYPE;

EID: 34548745149     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2007.06.003     Document Type: Article

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