Molecular genetics of Duchenne and Becker muscular dystrophy.
Molecular genetics of Duchenne and Becker muscular dystrophy.
复制标题
杜氏肌营养不良症和贝克尔肌营养不良症的分子遗传学。
DOI：
10.1016/s0022-3476(05)82437-0
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发表时间：
1990
期刊：
影响因子：
--
通讯作者：
Darras,BT
中科院分区：
文献类型：
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作者：
Darras,BT
Duchenne和Becker肌营养不良症是X连锁隐性神经肌肉疾病，其特征在于进行性肌无力。Duehenne肌营养不良症是男性中最常见的X连锁疾病，发病率约为1/3500活产男婴，总人口中的患病率约为3/100，000。这种疾病是人类已知的自发突变率最高的疾病之一：每一代10，000个配子中有1个。多达三分之一的病例以前没有家族史，因此代表母亲或祖父母之一的生殖系中的新生突变。虚弱的发作通常发生在2至3岁之间，但可能会延迟。孩子通常在跑步、跳跃、上台阶和其他类似活动方面有困难;他有不寻常的蹒跚步态、腰部前凸和小腿增大。肌无力选择性地影响近端肢体肌肉，然后是远端，下肢，然后是上肢。心肌也受到影响。DMD患者通常有不同程度的智力迟钝，尽管偶尔有男孩可能具有平均或高于平均的智力。受影响的儿童通常是车轮-
Duchenne and Becker muscular dystrophies are X-linked, recessive, neuromuscular diseases characterized by progressive muscular weakness. Duehenne muscular dystrophy is the most common X-linked disorder in man, l with an incidence of about 1 in 3500 live male births and a prevalence rate in the total population of about 3 per 100,000. The disease has one of the highest spontaneous mutation rates known in man: 1 of 10,000 gametes per generation. Up to one third of the cases have no previous family history and therefore represent de novo mutations in the germline of the mother or one of the grandparents. The onset of weakness usually occurs between 2 and 3 years of age, but it may be delayed. The child usually has difficulty with running, jumping, going up steps, and other similar activities; he has an unusual waddling gait, lumbar lordosis, and calf enlargement. Muscular weakness selectively affects proximal limb muscles before distal, and the lower limbs before the upper ones. Cardiac muscle is also affected. Patients with DMD often have varying degrees of mental retardation, although an occasional boy may have average or above-average intelligence. The affected children are usually wheel-