A mother and two of her daughters had deafness and cortical reflex myoclonus; the mother also had mild truncal ataxia. Muscle and skin biopsy specimens revealed abundant ragged-red fibres and abnormal mitochondria. The son of one of the daughters had sensorineural deafness. Three other grandchildren were asymptomatic. The two daughters also had diabetes mellitus, hypertension and cardiomyopathy...

Mitochondria provide energy (ATP) for all eukaryotic cells except mature erythrocytes and keratinocytes. They are abundant in cells that expend much energy, such as muscle, exocrine pancreas, nervous system, and heart cells, and motile sperm. Many mitochondrial enzymes are encoded by nuclear DNA and imported into the mitochondria. Like bacteria, mitochondria possess their own DNA and ribosomes....

Lipid-lowering drugs have been occasionally associated with neuromuscular symptoms and muscle biopsy changes. We reported the clinical course and the muscle biopsy in eight patients with hyperlipoproteinemia, treated with lipid -lowering drugs (statins/fibrates). Five patients had myalgias while; in two cases there was proximal muscle weakness. All patients became asymptomatic after the withdra...

Figure 1: Athey performing Self-Obliteration in 2008 Upon entering the theatre, the audience was invited to form a wide circle around the artist, who was positioned on a high platform in the centre of the theatre where he could be viewed from any angle. Athey's lean and muscular naked body, nearly covered in tattoos which narrate his rich and ragged history, appeared to be hyper-visceral as it ...

The complete nucleotide sequence of rice ragged stunt virus genome segment 9 (S9) was determined. The S9 segment is 1132 nucleotides long and has a long open reading frame starting from the first AUG codon at nucleotide position 14-16 and terminating at a UAG codon located at 1028-1030, which could encode a polypeptide with an Mr of 38 600 (P9). The encoded polypeptide has no sequence homology ...

We have purified and characterized the cerebral amyloid protein that forms the plaque core in Alzheimer disease and in aged individuals with Down syndrome. The protein consists of multimeric aggregates of a polypeptide of about 40 residues (4 kDa). The amino acid composition, molecular mass, and NH2-terminal sequence of this amyloid protein are almost identical to those described for the amyloi...

The morphology of cells of the H37Ra strain of Mycobacterium tuberculosis exposed to 0.5 mug of isonicotinic acid hydrazide (isoniazid) per ml was examined by scanning electron microscopy (SEM). Cells that were exposed to isoniazid for 3 h showed no detectable change, whereas cells exposed to the drug for 24 h exhibited diverse morphological features. From our examination of these SEM pictures,...

The gyrotron backward-wave oscillator (gyro-BWO) features broadband tunability, but ragged tuning curves are frequently observed experimentally. Accordingly, a Ka-band gyro-BWO experiment with external circuit mismatch was conducted to examine its tuning properties at two reflected strengths: one is slightly mismatched (15 dB reflection) and the other can be categorized as matched (30 dB reflec...

Fourteen patients with familial juvenile nephronophthisis are described, eight of whom displayed one or more additional disorders. One boy with short limbed dwarfism and an abnormal chest was considered to have Jeune's syndrome; review of the published reports supports the view that nephronophthisis is the principal cause of renal failure in this disorder. Another patient with renal failure and...

Harlequin is a coat pattern of the Great Dane characterized by ragged patches of full color on a white background. Harlequin patterning is a bigenic trait, resulting from the interaction of the merle allele of SILV, and a dominant modifier locus, H. Breeding data suggest that H is embryonic recessive lethal and that all harlequins are Hh. To identify linkage with the harlequin phenotype, 46 Gre...