HNPP and Limb Girdle MD Type 1 genes in same family

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Neuromuscul Disord. 2005 Nov 7; [Epub ahead of print] Related

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Co-segregation of LMNA and PMP22 gene mutations in the same family.

Pegoraro E, Gavassini BF, Benedetti S, Menditto I, Zara G, Padoan R,

Mostacciuolo ML, Ferrari M, Angelini C.

Department of Neurosciences, University of Padova, via Giustiniani 5,

35128 Padova, Italy.

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.