Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

Cell

Volumn 81, Issue 1, 1995, Pages 27-40

  Richard, Isabelle ^a   Broux, Odile ^a   Allamand, Valéerie ^a   Fougerousse, Françoise ^a   Chiannilkulchai, Nuchanard ^a   Bourg, Nathalie ^a   Brenguier, Lydie ^a   Devaud, Catherine ^a   Pasturaud, Patricia ^a   Roudaut, Carinne ^a   Hillaire, Dominique ^a   Passos Bueno, Maria Rita ^b   Zatz, Mayana ^b   Tischfield, Jay A ^c   Fardeau, Michel ^d   Jackson, Charles E ^e   Cohen, Daniel ^f   Beckmann, Jacques S ^a,f  

^a GÉNÉTHON   (France)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

^c INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d CNRS   (France)

^e HENRY FORD HOSPITAL   (United States)

^f Fondation Jean Dausset Centre d'Itude du Polymorphisme Humain   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CALPAIN 3; COMPLEMENTARY DNA; CYSTEINE PROTEINASE; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ARTICLE; BRAZIL; CHROMOSOME 15Q; CONTROLLED STUDY; DNA SEQUENCE; ENZYME DEFECT; FAMILY STUDY; FRAMESHIFT MUTATION; FRANCE; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; LIMB GIRDLE MUSCULAR DYSTROPHY; MAJOR CLINICAL STUDY; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL;

EID: 0028905205     PISSN: 00928674     EISSN: None     Source Type: Journal    
DOI: 10.1016/0092-8674(95)90368-2     Document Type: Article

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