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Article

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

Neuromuscular disorders : NMD - 1 Dec 2005

Pegoraro Elena, Gavassini Bruno F, Benedetti Sara, Menditto Immacolata, Zara Gabriella, Padoan Roberta, Mostacciuolo Maria Luisa, Ferrari Maurizio, Angelini Corrado

Abstract excerpt

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...

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Source

Identifiers

PMID: 16288874
DOI: 10.1016/j.nmd.2005.08.008

Genes

LMNA
PMP22

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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