The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene

B. G.M. van Engelen; A. Muchir; C. J. Hutchison; A. J. van der Kooi; G. Bonne; M. Lammens

doi:10.1212/01.WNL.0000149763.15180.00

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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.

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