Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
9200847 | Neuromuscular Disorders | 2005 | 5 Pages |
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.
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Authors
Elena Pegoraro, Bruno F. Gavassini, Sara Benedetti, Immacolata Menditto, Gabriella Zara, Roberta Padoan, Maria Luisa Mostacciuolo, Maurizio Ferrari, Corrado Angelini,