Hoffjan Sabine, Thiels Charlotte, Vorgerd Matthias, Neuen-Jacob Eva, Epplen Jörg T, Kress Wolfram
Department of Human Genetics, Ruhr-University Bochum, Germany.
Neuromuscul Disord. 2006 Nov;16(11):749-53. doi: 10.1016/j.nmd.2006.07.020. Epub 2006 Sep 26.
X-linked myotubular myopathy (XLMTM) is a congenital muscle disorder caused by mutations in the MTM1 gene. Affected males usually present at birth with severe hypotonia and respiratory insufficiency, and most of them die within the first few years of life. We report here on a 68-year-old patient with a very mild form of the disease who was diagnosed after his grandson showed muscular weakness and respiratory problems at birth. The E404K mutation in the MTM1 gene was found in both patients. To our knowledge, this grandfather is one of the oldest and most mildly affected known patients with an MTM1 mutation to date. Thus, this family represents a remarkable phenotypic variation of XLMTM ranging from a congenital to a mild adult form.
X连锁肌管性肌病（XLMTM）是一种由MTM1基因突变引起的先天性肌肉疾病。受影响的男性通常在出生时就表现出严重的肌张力减退和呼吸功能不全，大多数在生命的头几年内死亡。我们在此报告一名68岁的患者，其患有非常轻微形式的该疾病，在其孙子出生时出现肌肉无力和呼吸问题后被诊断出来。在两名患者中均发现了MTM1基因的E404K突变。据我们所知，这位祖父是迄今为止已知的携带MTM1突变的年龄最大且症状最轻的患者之一。因此，这个家族代表了XLMTM从先天性到轻度成人形式的显著表型变异。
