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

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

doi:10.1016/j.nmd.2005.08.008

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

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

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	858-862
Number of pages	5
Journal	Neuromuscular Disorders
Volume	15
Issue number	12
DOIs	https://doi.org/10.1016/j.nmd.2005.08.008
Publication status	Published - Dec 2005

Keywords

HNPP
LGMD1B
LMNA
PMP22

ASJC Scopus subject areas

Clinical Neurology
Pediatrics, Perinatology, and Child Health
Developmental Neuroscience
Neurology

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10.1016/j.nmd.2005.08.008

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title = "Co-segregation of LMNA and PMP22 gene mutations in the same family",

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 = "HNPP, LGMD1B, LMNA, PMP22",

author = "Elena Pegoraro and Gavassini, {Bruno F.} and Sara Benedetti and Immacolata Menditto and Gabriella Zara and Roberta Padoan and Mostacciuolo, {Maria Luisa} and Maurizio Ferrari and Corrado Angelini",

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language = "English",

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T1 - Co-segregation of LMNA and PMP22 gene mutations in the same family

AU - Pegoraro, Elena

AU - Gavassini, Bruno F.

AU - Benedetti, Sara

AU - Menditto, Immacolata

AU - Zara, Gabriella

AU - Padoan, Roberta

AU - Mostacciuolo, Maria Luisa

AU - Ferrari, Maurizio

AU - Angelini, Corrado

PY - 2005/12

Y1 - 2005/12

N2 - 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.

AB - 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.

KW - HNPP

KW - LGMD1B

KW - LMNA

KW - PMP22

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

Abstract

Keywords

ASJC Scopus subject areas

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