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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy
Neuromuscular Disorders, Volume 19, No. 1, Year 2009
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Description
Life-threatening cardiac and respiratory complications are common in LMNA-related myopathies and early diagnosis is important for optimal patient care. Lamin A/C related congenital muscular dystrophy (L-CMD) is often caused by de novo mutation in LMNA, affecting a single child in a family. Germinal mosaicism is a rarer variant that can lead to two children inheriting the same new heterozygous mutation from a clinically unaffected parent. Both patterns mimic autosomal recessive (AR) inheritance and the possibility of de novo L-CMD may be forgotten since most causes of congenital muscular dystrophy follow AR inheritance. To illustrate the challenge of diagnosing L-CMD, we present a consanguineous family in which two children have early onset LMNA-related myopathy likely due to paternal germinal mosaicism. This emphasises that germinal mosaicism (and de novo mutations) for LMNA can arise in any family and direct gene sequencing is required to confirm or exclude the diagnosis. © 2008 Elsevier B.V. All rights reserved.
Authors & Co-Authors
Makri, Samira
Algeria, Algiers
Etablissement Hospitalier Spécialisé Ali Ait Idir
Clarke, Nigel F.
France, Paris
Inserm
France, Paris
Sorbonne Université
Richard, Pascale
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Maugenre, Svetlana
France, Paris
Inserm
France, Paris
Sorbonne Université
Demay, Laurence
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Bonne, Giséle
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Guicheney, Pascale
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Statistics
Citations: 27
Authors: 7
Affiliations: 4
Identifiers
Doi:
10.1016/j.nmd.2008.09.016
ISSN:
09608966
Research Areas
Cancer
Disability
Genetics And Genomics
Health System And Policy
Maternal And Child Health
Noncommunicable Diseases