Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy

S. Benedetti, E. Bertini, S. Iannaccone, C. Angelini, M. Trisciani, D. Toniolo, B. Sferrazza, P. Carrera, G. Comi, M. Ferrari, A. Quattrini, Stefano C. Previtali

Research output: Contribution to journalArticle

Abstract

The coexistence of neurogenic and myogenic features in scapuloperoneal syndrome is rarely ascribed to a single gene. Defects in the nuclear envelope protein lamin A/C, encoded by the LMNA gene, have been shown to be associated with a variety of disorders affecting mainly the muscular and adipose tissues and, more recently, with autosomal recessive Charcot-Marie-Tooth type 2 neuropathy. This report is about a patient presenting features of myopathy and neuropathy due to a dominant LMNA mutation, suggesting that the peripheral nerve might be affected in primary LMNA myopathy. Our observations further support the marked intrafamilial and interfamilial phenotypic heterogeneity associated with lamin A/C defects.

Original languageEnglish
Pages (from-to)1019-1021
Number of pages3
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume76
Issue number7
DOIs
Publication statusPublished - Jul 2005

Fingerprint

Lamin Type A
Muscular Dystrophies
Peripheral Nervous System Diseases
Muscular Diseases
Mutation
Nuclear Envelope
Nuclear Proteins
Peripheral Nerves
Genes
Adipose Tissue
Tooth

ASJC Scopus subject areas

  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)
  • Psychiatry and Mental health

Cite this

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title = "Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy",
abstract = "The coexistence of neurogenic and myogenic features in scapuloperoneal syndrome is rarely ascribed to a single gene. Defects in the nuclear envelope protein lamin A/C, encoded by the LMNA gene, have been shown to be associated with a variety of disorders affecting mainly the muscular and adipose tissues and, more recently, with autosomal recessive Charcot-Marie-Tooth type 2 neuropathy. This report is about a patient presenting features of myopathy and neuropathy due to a dominant LMNA mutation, suggesting that the peripheral nerve might be affected in primary LMNA myopathy. Our observations further support the marked intrafamilial and interfamilial phenotypic heterogeneity associated with lamin A/C defects.",
author = "S. Benedetti and E. Bertini and S. Iannaccone and C. Angelini and M. Trisciani and D. Toniolo and B. Sferrazza and P. Carrera and G. Comi and M. Ferrari and A. Quattrini and Previtali, {Stefano C.}",
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T1 - Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy

AU - Benedetti, S.

AU - Bertini, E.

AU - Iannaccone, S.

AU - Angelini, C.

AU - Trisciani, M.

AU - Toniolo, D.

AU - Sferrazza, B.

AU - Carrera, P.

AU - Comi, G.

AU - Ferrari, M.

AU - Quattrini, A.

AU - Previtali, Stefano C.

PY - 2005/7

Y1 - 2005/7

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AB - The coexistence of neurogenic and myogenic features in scapuloperoneal syndrome is rarely ascribed to a single gene. Defects in the nuclear envelope protein lamin A/C, encoded by the LMNA gene, have been shown to be associated with a variety of disorders affecting mainly the muscular and adipose tissues and, more recently, with autosomal recessive Charcot-Marie-Tooth type 2 neuropathy. This report is about a patient presenting features of myopathy and neuropathy due to a dominant LMNA mutation, suggesting that the peripheral nerve might be affected in primary LMNA myopathy. Our observations further support the marked intrafamilial and interfamilial phenotypic heterogeneity associated with lamin A/C defects.

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