强直性肌营养不良症与甲状旁腺功能亢进：与神经纤维瘤病及2A型多发性内分泌腺瘤病的关联。
Myotonic dystrophy and hyperparathyroidism: association with neurofibromatosis and multiple endocrine adenomatosis type 2A.
作者信息
Rosenberg N L, Diliberti J H, Andrews A M, Buist N R
机构信息
Department of Neurology, University of Colorado School of Medicine, Denver.
出版信息
J Neurol Neurosurg Psychiatry. 1988 Dec;51(12):1578-80. doi: 10.1136/jnnp.51.12.1578.
Abstract
Four patients with hyperparathyroidism associated with myotonic dystrophy have been identified. All were females aged between 2 and 45 years. They were from three separate families, with two related patients being mother and daughter. In addition, one patient had medullary carcinoma of the thyroid and was diagnosed as having multiple endocrine adenomatosis, type 2A; another had an unspecified thyroid carcinoma; a third patient had neurofibromatosis. Our data suggest that myotonic dystrophy may somehow be associated with one or more of these disorders of neural crest origin.
摘要
已确诊4例甲状旁腺功能亢进合并强直性肌营养不良的患者。所有患者均为女性，年龄在2至45岁之间。她们来自三个不同的家庭，其中两名有亲属关系的患者是母女。此外，一名患者患有甲状腺髓样癌，被诊断为2A型多发性内分泌腺瘤病；另一名患者患有未明确类型的甲状腺癌；第三名患者患有神经纤维瘤病。我们的数据表明，强直性肌营养不良可能在某种程度上与这些源于神经嵴的一种或多种疾病有关。
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本文引用的文献
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Autosomal recessive inheritance of familial hyperparathyroidism.家族性甲状旁腺功能亢进症的常染色体隐性遗传
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Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17.冯雷克林霍增氏神经纤维瘤病的基因位于17号染色体的着丝粒周围区域。
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Linkage analysis of peripheral neurofibromatosis (Von Recklinghausen disease) and chromosome 19 markers linked to myotonic dystrophy.外周神经纤维瘤病（冯·雷克林豪森病）与19号染色体上与强直性肌营养不良相关的标记物的连锁分析。
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Linkage analysis of a DNA marker localized to 20p12 and multiple endocrine neoplasia type 2A.定位于20p12的DNA标记与2A型多发性内分泌腺瘤的连锁分析。
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