Compound Heterozygosity for Mutations in LMNA in a Patient with a Myopathic and Lipodystrophic Mandibuloacral Dysplasia Type A Phenotype - Concepedia

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Compound Heterozygosity for Mutations in LMNA in a Patient with a Myopathic and Lipodystrophic Mandibuloacral Dysplasia Type A Phenotype

62

Citations

14

References

2007

Year

Francesca Lombardi, F Gullotta, Marta Columbaro, Antonio Filareto, Monica D’Adamo, Anne Vielle, Valeria Guglielmi, Anna Maria Nardone, Valeria Azzolini, Enrico Grosso,

The Journal of Clinical Endocrinology & Metabolism

Abstract

The clinical and cellular features of this patient show overlapping laminopathy phenotypes that could be due to the combination of p.R527H and p.V440M alleles.

References

	Year	Citations

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