显性LMNA突变导致肌肉萎缩合并周围神经病变

来源 :世界核心医学期刊文摘(神经病学分册) | 被引量 : 0次 | 上传用户:a62058803
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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. 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 variety of disorders affecting mainly the muscular and adipose tissues and, more rently, 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.
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