Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation
Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation
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DOI：
10.1016/s0960-8966(02)00194-3
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发表时间：
2003-01-01
影响因子：
2.8
通讯作者：
Muntoni, F
中科院分区：
文献类型：
--
作者：
Jungbluth, H;Sewry, CA;Muntoni, F
X连锁肌管性肌病是一种严重的男性先天性肌病，由染色体Xq 28上的肌管蛋白（MTM 1）基因突变引起。在MTM 1突变的杂合子携带者，临床症状通常是缺席或只有mild.We报告一个6岁的女孩在出生时提出了显着的张力减退和相关的喂养和呼吸困难。5个月时进行的肌肉活检提示肌管性肌病的诊断。在6岁时的检查中，她有明显的面部无力，双侧上睑下垂和眼外肌麻痹，严重的轴向和近端无力和轻度脊柱侧凸。肌肉磁共振成像显示肌肉受累的独特模式。MTM 1基因的分子遗传学研究确定了外显子12的杂合突变。淋巴细胞的X-失活研究显示了一个非常偏态的模式（97：3）。本病例强调，MTM 1基因的研究和X-失活研究表明，在孤立的女性与组织病理学和临床表现提示肌管性肌病。(C)2002 Elsevier Science，B. V.保留所有权利。
X-linked myotubular myopathy is a severe congenital myopathy in males, caused by mutations in the myotubularin (MTM1) gene on chromosome Xq28. In heterozygous carriers of MTM1 mutations, clinical symptoms are usually absent or only mild.We report a 6-year-old girl presenting at birth with marked hypotonia and associated feeding and respiratory difficulties. A muscle biopsy performed at 5 months suggested a diagnosis of myotubular myopathy. On examination at 6 years she had marked facial weakness with bilateral ptosis and external ophthalmoplegia, severe axial and proximal weakness and a mild scoliosis. Muscle magnetic resonance imaging showed a distinctive pattern of muscle involvement.Molecular genetic investigation of the MTM1 gene identified a heterozygous mutation in exon 12. X-inactivation studies in lymphocytes showed an extremely skewed pattern (97:3).This case emphasizes that investigation of the MTM1 gene and X-inactivation studies are indicated in isolated females with histopathological and clinical findings suggestive of myotubular myopathy. (C) 2002 Elsevier Science,B.V. All rights reserved.