Autosomal dominant multicore disease.
نویسندگان
چکیده
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.
منابع مشابه
Fasting in a 16-year-old girl at-risk of autosomal dominant polycystic kidney disease
Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of inherited kidney disease that results in renal failure. PKD currently has no causative therapy. However, some treatment options are available, ranging from symptomatic therapy to delaying the onset of end-stage renal failure. Early diagnosis of adult polycystic kidney disease is vital in order to prevent its complic...
متن کاملMOLECULAR STUDY OF PKD1 & PKD2 GENES BY LINKAGE ANALYSIS AND DETERMINING THE GENOTYPE/PHENOTYPE CORRELATIONS IN SEVERAL IRANIAN FAMILIES WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE
ABSTRACT Background: Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder with genetic heterogeneity. Up to three loci are involved in this disease, PKDI on chromosome 16p13.3, PKD2 on 4q21, and a third locus of unknown location. Methods: Here we report the first molecular genetic study of ADPKD and the existence oflocus heterogeneity for ADPKD in the Iranian populatio...
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Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic kidney disorders with the incidence of 1 in 1,000 births. ADPKD is genetically heterogeneous with two genes identified: PKD1 (16p13.3, 46 exons) and PKD2 (4q21, 15 exons). Eighty five percent of the patients with ADPKD have at least one mutation in the PKD1 gene. Genetic studies have demonstrate...
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عنوان ژورنال:
- Journal of neurology, neurosurgery, and psychiatry
دوره 45 4 شماره
صفحات -
تاریخ انتشار 1982