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 | |
| Publication status | Published - Jul 2005 |
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ASJC Scopus subject areas
- Neuropsychology and Physiological Psychology
- Neuroscience(all)
- Psychiatry and Mental health
Cite this
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
}
TY - JOUR
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
N2 - 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.
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.
UR - http://www.scopus.com/inward/record.url?scp=21344454463&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=21344454463&partnerID=8YFLogxK
U2 - 10.1136/jnnp.2004.046110
DO - 10.1136/jnnp.2004.046110
M3 - Article
C2 - 15965218
AN - SCOPUS:21344454463
VL - 76
SP - 1019
EP - 1021
JO - Journal of Neurology, Neurosurgery and Psychiatry
JF - Journal of Neurology, Neurosurgery and Psychiatry
SN - 0022-3050
IS - 7
ER -