Rudenskaia G E, Ginter E K, Mamedova R A, Petrin A N, Poleshchuk V V
Genetika. 1993 Nov;29(11):1878-88.
All the cases of hereditary motor and sensory neuropathy (HMSN) in an eastern part of Kirov region (Russian north-east) were ascertained (N = 42 including 11 persons with pre/subclinical forms; m: f = 1). HMSN prevalence is 15.95 +/- 2.47.10(-5) being higher in rural than in urban populations. The distribution of HMSN families (total 16) in 9 districts of the region is uneven. HMSN is the most common of all hereditary muscular disorders in the region. Autosomal dominant inheritance was established in 12 families, AD gene frequency is 10.90 +/- 2.90.10(-5) gene penetrance being 90%. Sporadic cases were few (N = 4; 9.76%). No proven autosomal recessive or X-linked inheritance was found out.
在基洛夫地区(俄罗斯东北部)东部,对所有遗传性运动和感觉神经病(HMSN)病例进行了确诊(N = 42,包括11例处于临床前/亚临床阶段的患者;男∶女 = 1)。HMSN患病率为15.95±2.47×10⁻⁵,农村地区高于城市地区。该地区9个区中HMSN家族(共16个)的分布不均衡。HMSN是该地区所有遗传性肌肉疾病中最常见的。在12个家族中确定为常染色体显性遗传,AD基因频率为10.90±2.90×10⁻⁵,基因外显率为90%。散发病例较少(N = 4;9.76%)。未发现经证实的常染色体隐性或X连锁遗传。