Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy
Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy
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DOI：
10.1136/jnnp.2004.046110
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发表时间：
2005-07-01
影响因子：
11
通讯作者：
Previtali, SC
中科院分区：
文献类型：
--
作者：
Benedetti, S;Bertini, E;Previtali, SC
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.
