The coexistence of neurogenic and myogenic features in scapuloperoneal syndro me 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 ...The coexistence of neurogenic and myogenic features in scapuloperoneal syndro me 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 var iety of disorders affecting mainly the muscular and adipose tissues and, more re cently, 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 affecte d in primary LMNA myopathy. Our observations further support the marked intrafam ilial and interfamilial phenotypic heterogeneity associated with lamin A/C defec ts.展开更多
文摘The coexistence of neurogenic and myogenic features in scapuloperoneal syndro me 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 var iety of disorders affecting mainly the muscular and adipose tissues and, more re cently, 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 affecte d in primary LMNA myopathy. Our observations further support the marked intrafam ilial and interfamilial phenotypic heterogeneity associated with lamin A/C defec ts.
