The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene.
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.
van Engelen
B G M
BG
Neuromuscular Centre, Nijmegen Institute of Neurology and Department of Pathology, University Medical Centre Nijmegen, 6500 HB Nijmegen, The Netherlands. b.vanengelen@neuro.umcn.nl
Muchir
A
A
Hutchison
C J
CJ
van der Kooi
A J
AJ
Bonne
G
G
Lammens
M
M
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
D018389:Codon, Nonsense; D034904:Lamin Type A