Autosomal dominant multicore disease.

Autosomal dominant multicore disease.

Two girls and their mother with multicore myopathy are described. The cores consisted of Z band disorganisation and decreased or absent enzyme activity. Only one case has clinical signs of myopathy. Muscle enzyme activity was elevated in the two children. The mode of inheritance was autosomal dominant.

Autosomal Dominant Polycystic Kidney Disease

Autosomal dominant polycystic kidney disease.

The lack of reliable data on frequency, age of onset, survival, spontaneous mutation rate and prognosis in autosomal dominant polycystic kidney disease is a continual source of frustration to physicians involved in counselling patients and their relatives. The only major study to address all of these issues in a defined population was presented by Dalgaard as a 251-page doctoral thesis in 1957 ...

Autosomal Dominant Polycystic Kidney Disease

recessive forms (1–3), autosomal dominant polycystic kidney disease (ADPKD) with an incidence of 1 : 500 to 1 : 1000 is one of the commonest hereditary diseases (4). Some 5 million people worldwide are affected. In many countries ADPKD is the fourth most frequent cause of end-stage renal failure. About 85% of these diseases are caused by mutations in the PKD1 gene, the remaining 15% are due to ...

Autosomal dominant polycystic kidney disease.

Autosomal dominant polycystic kidney disease is the most prevalent, potentially lethal, monogenic disorder. It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and modifier genes. An increased understanding of the disorder's underlying genetic, molecular, and cellular mechanisms and a better appreciation ...