Open AccessExtreme Variability of Phenotype in Patients With an Identical Missense Mutation in the Lamin A/C Gene
Author(s) -
Eugenio Mercuri,
Maja Poppe,
R. Quinlivan,
Sonia Messina,
Maria Kinali,
Laurence Demay,
John Bourke,
Pascale Richard,
Caroline A. Sewry,
Mike Pike,
Gisèle Bonne,
Francesco Muntoni,
Kate Bushby
Publication year - 2004
Publication title -
archives of neurology
Language(s) - English
Resource type - Journals
eISSN - 1538-3687
pISSN - 0003-9942
DOI - 10.1001/archneur.61.5.690
Subject(s) - lmna , missense mutation , lamin , muscle weakness , weakness , exon , wasting , muscular dystrophy , genetics , atrophy , biology , mutation , medicine , gene , anatomy , endocrinology
Mutations of the LMNA gene, encoding the nuclear envelope proteins lamins A and C, have been associated with 7 distinct pathologic conditions.
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