Missense mutations in desmin associated with familial cardiac and skeletal myopathy

Nature Genetics

Volumn 19, Issue 4, 1998, Pages 402-403

  Goldfarb, Lev G ^a   Park, Kye Yoon ^a   Cervenákova, Larisa ^b,c   Gorokhova, Svetlana ^a,b   Lee, Hee Suk ^a   Vasconcelos, Olavo ^a   Nagle, James W ^a   Semino Mora, Christina ^a   Sivakumar, Kumaraswamy ^a,d   Dalakas, Marines C ^a  

^a Medical Neurology Branch   (United States)

^b NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^c HOLLAND LABORATORY   (United States)

^d BARROW NEUROLOGICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DESMIN;

ARTICLE; CARDIOMYOPATHY; CONGENITAL HEART MALFORMATION; HEART CONDUCTION; HUMAN; HUMAN TISSUE; MISSENSE MUTATION; MUSCLE WEAKNESS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SKELETAL MUSCLE;

ADULT; AGE OF ONSET; AGED; CARDIOMYOPATHIES; CHILD; CHILD, PRESCHOOL; DESMIN; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUSCULAR DISEASES; PEDIGREE; POINT MUTATION;

EID: 17344373157     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/1300     Document Type: Article

References (11)

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