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Co-segregation of LMNA and PMP22 gene mutations in the same family |
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| Authors: | Pegoraro Elena Gavassini Bruno F Benedetti Sara Menditto Immacolata Zara Gabriella Padoan Roberta Mostacciuolo Maria Luisa Ferrari Maurizio Angelini Corrado |
| Affiliation: | aDepartment of Neurosciences, University of Padova, via Giustiniani 5, 35128 Padova, Italy bLaboratory of Clinical Molecular Biology, Diagnostica e Ricerca San Raffaele, Milano, Italy cDepartment of Biology, University of Padova, Padova, Italy dUnit of Genomics for Human Disease Diagnosis, IRCCS San Raffaele Institute, Milano, Italy |
| Abstract: | We report here clinical, electrophysiological, and molecular findings in a family affected with two inherited genetic diseases: limb girdle muscular dystrophy type 1B (LGMD1B) and hereditary neuropathy with liability to pressure palsies (HNPP). Members of the family carry a novel missense mutation in the LMNA gene and a nonsense mutation in the PMP22 gene. Interestingly, the double LMNA/PMP22 mutations carriers showed clinical features more severe than usually seen in HNPP, and electrophysiological findings suggesting an axonal loss in addition to a typical myelinopathy. This study provides further insights into the relevance of lamin A/C in muscle and nerve. |
| Keywords: | LGMD1B HNPP LMNA PMP22 |
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