Nishino I, Minami N, Kobayashi O, Ikezawa M, Goto Y, Arahata K, Nonaka I
Department of Ultrastructural Research, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.
Neuromuscul Disord. 1998 Oct;8(7):453-8. doi: 10.1016/s0960-8966(98)00075-3.
The severe infantile form of myotubular myopathy is a fatal muscle disease that predominantly affects male infants and is characterized by severe weakness and hypotonia from birth. X-linked myotubular myopathy was found to be associated with mutations in the MTM1 gene in Xq28 encoding the putative tyrosine phosphatase, myotubularin. We screened the MTM1 gene for mutations in seven Japanese patients (six males and one female) who had the diagnosis of severe infantile form of myotubular myopathy. We found five mutations, including three novel mutations based on sequence analysis of RT-PCR fragments covering the entire open reading frame. Two patients (one male and one female), who had similar clinicopathologic features, did not have any mutation in the MTM1 gene open reading frame, suggesting that they may have had an autosomal recessive disease.
严重婴儿型肌管性肌病是一种致命的肌肉疾病，主要影响男性婴儿，其特征是自出生起就出现严重肌无力和肌张力减退。X连锁肌管性肌病被发现与位于Xq28的MTM1基因中的突变相关，该基因编码假定的酪氨酸磷酸酶——肌管素。我们对7例被诊断为严重婴儿型肌管性肌病的日本患者（6例男性和1例女性）的MTM1基因进行了突变筛查。通过对覆盖整个开放阅读框的RT-PCR片段进行序列分析，我们发现了5个突变，其中包括3个新突变。两名具有相似临床病理特征的患者（1例男性和1例女性）在MTM1基因开放阅读框中未发现任何突变，这表明他们可能患有常染色体隐性疾病。
