title: Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy.
abstract: Mutations in the LMNA gene encoding the nuclear envelope protein, lamins A and C, have been associated with at least nine distinct disorders now called laminopathies, including Emery-Dreifuss muscular dystrophy and Charcot-Marie-Tooth type 2 disease. We identified a novel mutation in the 5' region of the LMNA gene -3del15, resulting in the loss of 15 nucleotides from -3 to +12, including the translation ATG initiator codon. The mutation segregates in a previously described family with a clinical phenotype that shared features of both Emery-Dreifuss muscular dystrophy and Charcot-Marie-Tooth type 2. Thus, the mutation with this unique phenotypical expression represents the first example for a link between the neurogenic and myogenic phenotypes and extends the clinical variability of laminopathies.
authors.affiliation: Friedrich-Baur-Institute, Gene Center and Department of Neurology, Ludwig-Maximilians-University of Munich, Munich, Germany.
authors.forename: Maggie C
authors.initials: MC
authors.lastname: Walter
authors.forename: Thomas N
authors.initials: TN
authors.lastname: Witt
authors.forename: Beate Schlotter
authors.initials: BS
authors.lastname: Weigel
authors.forename: Peter
authors.initials: P
authors.lastname: Reilich
authors.forename: Pascale
authors.initials: P
authors.lastname: Richard
authors.forename: Dieter
authors.initials: D
authors.lastname: Pongratz
authors.forename: Gisèle
authors.initials: G
authors.lastname: Bonne
authors.forename: Manfred S
authors.initials: MS
authors.lastname: Wehnert
authors.forename: Hanns
authors.initials: H
authors.lastname: Lochmüller
mesh_terms: D000328:Adult; D018387:Codon, Initiator / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005260:Female; D017353:Gene Deletion; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics* / Q000473:pathology
chemical_list: D018387:Codon, Initiator; D034904:Lamin Type A