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• W2125786876 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 <i>LMNA</i> 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 <i>LMNA</i> mutation, suggesting that the peripheral nerve might be affected in primary <i>LMNA</i> myopathy. Our observations further support the marked intrafamilial and interfamilial phenotypic heterogeneity associated with lamin A/C defects." @default.
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• W2125786876 date "2005-07-01" @default.
• W2125786876 modified "2023-10-03" @default.
• W2125786876 title "Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy" @default.
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• W2125786876 doi "https://doi.org/10.1136/jnnp.2004.046110" @default.
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