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June 12, 2008Annals of Neurology

De novo LMNA mutations cause a new form of congenital muscular dystrophy

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Authors

SQSusana Quijano‐RoyBMBlaise MbieleuCBCarsten G. Bönnemann

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Quijano‐Roy et al. (2008) studied this question.

synapsesocial.com/papers/6a70330c5d37378ac1dd4555https://doi.org/10.1002/ana.21417
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Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Congenital muscular dystrophy with primary laminin α2 (merosin) deficiency presenting as inflammatory myopathy1996 · 115 citations
  2. 2Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)2000 · 614 citations
  3. 3Mutation analysis of the lamin A/C gene (<i>LMNA</i>) among patients with different cardiomuscular phenotypes2003 · 113 citations
  4. 4Phenotypic clustering of lamin A/C mutations in neuromuscular patients2007 · 133 citations