Przybojewski J Z, Hoffman H, de Graaf A S, van der Walt J J, Tiedt F A, O'Kennedy A, Torrington M, Lochner A, Hewlett R
S Afr Med J. 1981 Mar 14;59(11):363-73.
A family consisting of parents and their 6 sons were investigated to elucidate the relationship between a hypertrophic cardiomyopathy, musculoskeletal abnormalities and mental subnormality. The proband was diagnosed as having definite hypertrophic obstructive cardiomyopathy and the remaining family members were shown to have a spectrum of hypertropic non-obstructive cardiomyopathy. Mild muscle weakness was present in 3 sons. All the subjects except for 1 son showed definite signs of electromyographic abnormality, whereas sensory and motor conduction velocities were normal. All the EEGs except for that of the proband were normal. Testicular hypoplasia was present in 3 sons. The inheritance pattern appears to be polygenic autosomal recessive in type. Definite evidence of linkage between hypertrophic cardiomyopathy and HLA awaits further data.
对一个由父母及其6个儿子组成的家庭进行了调查，以阐明肥厚型心肌病、肌肉骨骼异常和智力发育迟缓之间的关系。先证者被诊断为明确的肥厚型梗阻性心肌病，其余家庭成员表现为一系列肥厚型非梗阻性心肌病。3个儿子存在轻度肌肉无力。除1个儿子外，所有受试者均表现出明确的肌电图异常迹象，而感觉和运动传导速度正常。除先证者外，所有脑电图均正常。3个儿子存在睾丸发育不全。遗传模式似乎为多基因常染色体隐性遗传。肥厚型心肌病与人类白细胞抗原（HLA）之间存在连锁的确切证据有待进一步数据证实。
