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:https://doi.org/10.1212/01.WNL.0000149763.15180.00

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

Research output: Contribution to journal › Article › Academic › peer-review

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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

Original language	English
Pages (from-to)	374-376
Journal	Neurology
Volume	64
Issue number	2
DOIs	https://doi.org/10.1212/01.WNL.0000149763.15180.00
Publication status	Published - 2005

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https://doi.org/10.1212/01.WNL.0000149763.15180.00

Cite this

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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",

author = "{van Engelen}, {B. G. M.} and A. Muchir and Hutchison, {C. J.} and {van der Kooi}, {A. J.} and G. Bonne and M. Lammens",

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AU - van Engelen, B. G. M.

AU - Muchir, A.

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AU - van der Kooi, A. J.

AU - Bonne, G.

AU - Lammens, M.

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AB - 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

U2 - https://doi.org/10.1212/01.WNL.0000149763.15180.00

DO - https://doi.org/10.1212/01.WNL.0000149763.15180.00

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