Mutations in the gene encoding lamin A/C cause autosomal dominant Emery- Dreifuss muscular dystrophy

Nature Genetics

Volumn 21, Issue 3, 1999, Pages 285-288

  Bonne, Gisèle ^a   Di Barletta, Marina Raffaele ^a,b   Varnous, Shaida ^a   Bécane, Henri Marc ^a   Hammouda, El Hadi ^a   Merlini, Luciano ^c   Muntoni, Francesco ^d   Greenberg, Cheryl R ^e   Gary, Françoise ^f   Urtizberea, Jon Andoni ^a   Duboc, Denis ^a,g   Fardeau, Michel ^a   Toniolo, Daniela ^b   Schwartz, Ketty ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b CNR   (Italy)

^c RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^d HAMMERSMITH HOSPITAL   (United Kingdom)

^e HEALTH SCIENCES CENTRE   (Canada)

^f GÉNÉTHON   (France)

^g Université Paris Descartes   (France)

Author keywords

[No Author keywords available]

Indexed keywords

LAMIN A; LAMIN C;

ARTICLE; CARDIOMYOPATHY; CHROMOSOME 1Q; CLINICAL ARTICLE; EMERY DREIFUSS MUSCULAR DYSTROPHY; FEMALE; GENE LOCATION; GENE MUTATION; HUMAN; JOINT CONTRACTURE; MALE; MUSCLE WEAKNESS; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SYNDROME; X CHROMOSOME LINKAGE;

EID: 0032977685     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/6799     Document Type: Article

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