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

doi:10.1136/jnnp.2004.046110

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 journal › Article › peer-review

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 language	English
Pages (from-to)	1019-1021
Number of pages	3
Journal	Journal of Neurology, Neurosurgery and Psychiatry
Volume	76
Issue number	7
DOIs	https://doi.org/10.1136/jnnp.2004.046110
Publication status	Published - Jul 2005

ASJC Scopus subject areas

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

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Benedetti, S., Bertini, E., Iannaccone, S., Angelini, C., Trisciani, M., Toniolo, D., Sferrazza, B., Carrera, P., Comi, G., Ferrari, M., Quattrini, A., & Previtali, S. C. (2005). Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy. Journal of Neurology, Neurosurgery and Psychiatry, 76(7), 1019-1021. https://doi.org/10.1136/jnnp.2004.046110

Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy. / Benedetti, S.; Bertini, E.; Iannaccone, S.; Angelini, C.; Trisciani, M.; Toniolo, D.; Sferrazza, B.; Carrera, P.; Comi, G.; Ferrari, M.; Quattrini, A.; Previtali, Stefano C.

In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 76, No. 7, 07.2005, p. 1019-1021.

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

Benedetti, S , Bertini, E , Iannaccone, S, Angelini, C, Trisciani, M, Toniolo, D, Sferrazza, B, Carrera, P , Comi, G , Ferrari, M , Quattrini, A & Previtali, SC 2005, 'Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy', Journal of Neurology, Neurosurgery and Psychiatry, vol. 76, no. 7, pp. 1019-1021. https://doi.org/10.1136/jnnp.2004.046110

Benedetti, S. ; Bertini, E. ; Iannaccone, S. ; Angelini, C. ; Trisciani, M. ; Toniolo, D. ; Sferrazza, B. ; Carrera, P. ; Comi, G. ; Ferrari, M. ; Quattrini, A. ; Previtali, Stefano C. / Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy. In: Journal of Neurology, Neurosurgery and Psychiatry. 2005 ; Vol. 76, No. 7. pp. 1019-1021.

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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.",

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AU - Toniolo, D.

AU - Sferrazza, B.

AU - Carrera, P.

AU - Comi, G.

AU - Ferrari, M.

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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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