Biomaterial Database

Familial centronuclear myopathy: a haploid DNA disease? 1979

P Zimmermann, and U Weber

In the same family three boys (ages 8, 11, 14 years), suffering from a slowly progressive weakness of the flexors of the head and distal muscle groups of the extremities, were found to have a myopathy characterized by the presence of central nuclei in type I fibres. Their mother showed no histopathologic signs but a myopathic pattern on electromyography could be demonstrated. Cytophotometric examination of the anterior tibial muscle of these siblings revealed a reduction in DNA content by 50% in the central and subsarcolemmal nuclei (haploid DNA content) when compared with subsarcolemmal nuclei (diploid DNA content) of the same muscle of their mother. Nuclear DNA concentration in fibrocytes did not differ significantly between members of the family. Therefore, it is assumed that the nuclei of muscle fibres are selectively affected by the disease process which is indicated by a haploid DNA content.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D009135	Muscular Diseases	Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.	Muscle Disorders,Myopathies,Myopathic Conditions,Muscle Disorder,Muscular Disease,Myopathic Condition,Myopathy
D002467	Cell Nucleus	Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)	Cell Nuclei,Nuclei, Cell,Nucleus, Cell
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D004247	DNA	A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).	DNA, Double-Stranded,Deoxyribonucleic Acid,ds-DNA,DNA, Double Stranded,Double-Stranded DNA,ds DNA
D004576	Electromyography	Recording of the changes in electric potential of muscle by means of surface or needle electrodes.	Electromyogram,Surface Electromyography,Electromyograms,Electromyographies,Electromyographies, Surface,Electromyography, Surface,Surface Electromyographies
D005260	Female		Females
D006238	Haploidy	The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.	Haploid,Haploid Cell,Cell, Haploid,Cells, Haploid,Haploid Cells,Haploidies,Haploids
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man