Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle

Nature Genetics

Volumn 13, Issue 1, 1996, Pages 63-69

  Poetter, Karl ^a   Jiang, He ^b   Hassanzadeh, Shahin ^a   Master, Stephen R ^c   Chang, Anthony ^a   Dalakas, Marinos C ^b   Rayment, Ivan ^d   Sellers, James R ^b   Fananapazir, Lameh ^a   Epstein, Neal D ^a  

^a NHLBI   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c HOSPITAL OF THE UNIVERSITY OF PENNSYLVANIA   (United States)

^d UNIVERSITY OF WISCONSIN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MYOSIN LIGHT CHAIN;

ARTICLE; CARDIOMYOPATHY; GENE LOCATION; GENETIC LINKAGE; GENETIC VARIABILITY; HEART MUSCLE CELL; HUMAN; MISSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN STABILITY;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CARDIOMYOPATHY, HYPERTROPHIC; CHICKENS; DNA PRIMERS; FEMALE; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MICE; MODELS, STRUCTURAL; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUSCULAR DISEASES; MYOCARDIUM; MYOSIN LIGHT CHAINS; MYOSINS; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN STRUCTURE, SECONDARY; RATS; SEQUENCE HOMOLOGY, AMINO ACID; VENTRICULAR DYSFUNCTION, LEFT;

EID: 15844400653     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0596-63     Document Type: Article

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