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先证者男，１５岁，因进行性四肢无力１２年就诊。患儿自３岁起出现双下肢乏力，行走不稳，易跌倒。１０岁出现双上肢无力。四肢肌无力逐渐进展，近半年进一步加重，生活不能完全自理。查体：智力正常，颅神经正常。双上肢近端肌力Ⅲ级，远端肌力Ⅳ级；双下肢近端肌力Ⅱ级...
Male proband, 15 years old, due to progressive limb weakness 12 years treatment. Children from the age of 3 appear lower extremity weakness, unstable walking, easy to fall. 10-year-old double upper extremity weakness. Limb muscle weakness gradually progress in the past six months to further aggravate life can not completely take care of themselves. Physical examination: normal intelligence, normal cranial nerves. Upper extremity proximal muscle III, distal muscle IV; lower extremity proximal muscle Ⅱ ...