Meberg A, Skogen P
Acta Paediatr Scand. 1987 Mar;76(2):375-7. doi: 10.1111/j.1651-2227.1987.tb10484.x.
This report concerns three different manifestations of congenital muscular aplasia/hypoplasia in a mother (aplasia of the left tensor fasciae latae muscle) and her two children (aplasia of the left depressor anguli oris muscle, right hemidiaphragm hypoplasia), indicating autosomal dominant inheritance with variable expression (pleiotropy) as aetiology for the conditions.
本报告涉及一位母亲(左侧阔筋膜张肌发育不全)及其两个孩子(左侧降口角肌发育不全、右侧半膈发育不全)先天性肌肉发育不全/发育不良的三种不同表现,提示常染色体显性遗传伴可变表达(多效性)是这些病症的病因。