title: The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene.
abstract: The authors report the clinical and histologic phenotypes of a LGMD1B family including a newborn child with a homozygous LMNA nonsense mutation (Y259X). At the heterozygous state the nonsense mutation leads to a classic LGMD1B phenotype; the homozygous LMNA nonsense mutation causes a lethal phenotype.
authors.affiliation: Neuromuscular Centre, Nijmegen Institute of Neurology and Department of Pathology, University Medical Centre Nijmegen, 6500 HB Nijmegen, The Netherlands. b.vanengelen@neuro.umcn.nl
authors.forename: B G M
authors.initials: BG
authors.lastname: van Engelen
authors.forename: A
authors.initials: A
authors.lastname: Muchir
authors.forename: C J
authors.initials: CJ
authors.lastname: Hutchison
authors.forename: A J
authors.initials: AJ
authors.lastname: van der Kooi
authors.forename: G
authors.initials: G
authors.lastname: Bonne
authors.forename: M
authors.initials: M
authors.lastname: Lammens
mesh_terms: D000328:Adult; D000368:Aged; D018389:Codon, Nonsense; D003241:Consanguinity; D017809:Fatal Outcome; D005260:Female; D005804:Genes, Lethal; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype
chemical_list: D018389:Codon, Nonsense; D034904:Lamin Type A