Bachmann H, Lössner J
Z Gesamte Inn Med. 1981 Jun 1;36(11):381-6.
Value and regularities of the establishment of genealogical findings and of its evaluation and the genetic counseling are of important also in the hereditary neuromuscular diseases. Moreover, in the individual clinical pictures special tasks and additional diagnostics measures are the result. On the basis of individual instances the problems of the differentiation of the heredity in heterogenia of the phenotype, of the preclinical diagnosis, of the differentiation between the risk of disease and segregation in recessive heredity and of the recognition of carriers in X-chromosomal recessive inherited defects, particularly the progressive muscle dystrophy of the Duchenne type are entered.
系谱研究结果的建立、评估及其遗传咨询的价值和规律在遗传性神经肌肉疾病中也很重要。此外，在个体临床表现中会产生特殊任务和额外的诊断措施。基于个别病例，提出了表型异质性中遗传的区分、临床前诊断、隐性遗传中疾病风险与分离的区分以及X染色体隐性遗传缺陷中携带者识别的问题，特别是杜氏型进行性肌营养不良症。
