The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene
BGM Van Engelen, A Muchir, CJ Hutchison… - Neurology, 2005 - AAN Enterprises
Neurology, 2005•AAN Enterprises
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.
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.
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.
American Academy of Neurology