Fried K, Arlozorov A, Spira R
J Med Genet. 1975 Dec;12(4):416-8. doi: 10.1136/jmg.12.4.416.
Oculopharyngeal muscular dystrophy is known as a rare automsomal dominant disease. A family is reported suggesting that there may be genetic heterogeneity in oculopharyngeal muscular dystrophy and that in some families the mode of inheritance may be autosomal recessive.
眼咽型肌营养不良症是一种罕见的常染色体显性疾病。本文报道了一个家系,提示眼咽型肌营养不良症可能存在遗传异质性,在某些家系中其遗传方式可能为常染色体隐性遗传。