TY - JOUR A2 - Morrison, P. A2 - Cotter, P. D. AU - Domingues, Sara AU - Isidoro, Lara AU - Rocha, Dalila AU - Sales Marques, Jorge PY - 2014 DA - 2014/03/04 TI - Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency SP - 423071 VL - 2014 AB - 背景。型神经纤维瘤病1是一个多系统，进行性疾病，估计1 / 3500-2500发生率。线粒体疾病通常是多系统，并且可以在任何年龄出现，以及全球流行率是八千五百分之一。这些疾病的诊断，因为它的临床和遗传异质性复杂。 案例报告。We present a rare case of the association of these two different genetic diseases, in which a heterozygous missense mutation in the NF1 gene was identified which had not yet been described (p.M1149 V). Additionally, the patient is suspected of carrying an unspecified mutation causing respiratory chain complex I deficiency. Clinical presentation included hypotonia, global development delay, reduced growth rate, progressive microcephaly, and numerous 咖啡牛乳斑点。 讨论。据我们所知，这是复杂的我缺乏的神经纤维瘤病类型1，保持高度怀疑指数线粒体疾病的诊断是非常重要的一个病人的第一份报告。在这名患者，无论是实验室筛查和肌肉组织学正常，只有肌肉的生化研究使我们能够明确诊断。SN - 2090-6544 UR - https://doi.org/10.1155/2014/423071 DO - 10.1155 /四十二万三千○七十一分之二千○一十四JF - 病例报告遗传学PB - Hindawi出版公司公司KW - ER -