Showing papers in "Neuromuscular Disorders in 1991"

TL;DR: A survey of the world literature of the population frequencies of various inherited neuromuscular diseases has been carried out, with a conservative estimate of the overall prevalence among both sexes around 286 x 10(-6).

TL;DR: It is proposed that the duplication in 17p11.2 itself is the disease causing mutation in all the HMSN I families analyzed, and different allelic combinations were found segregating with the duplicates in different families linkage disequilibrium was not a significant factor.

TL;DR: The immunolocalization of dystrophin related protein to neuromuscular and myotendinous junctions, along with peripheral nerves and vasculature of skeletal muscle is defined for Duchenne/Becker muscular dystrophy.

TL;DR: Deflazacort (DF), an oxazoline derivative of prednisolone which reduces its side- effects, appears as an alternative to prednisone preserving its benefits but with fewer side-effects in Duchenne muscular dystrophy patients.

TL;DR: The data reinforce the view that brain dystrophin deficiency is correlated with cognitive dysfunction and indicate that mdx mice might be a model for the mental retardation found in DMD boys.

TL;DR: The development of lesions in dogs with canine X-linked muscular dystrophy was studied in dogs from birth to 8 weeks of age, and it is suggested that early development of injuries in certain muscles may be related to the activity of these muscles in neonatal dogs.

TL;DR: The phenotypic homogeneity of the regenerated muscles is a consequence of the temporary disconnection of muscle from nerve, rather than of the cycle of degeneration/regeneration, and it is suggested that this disconnection results in the reprogramming of the soleus motor neurones.

TL;DR: The present study strongly supports the idea that mitochondrial toxicity is the specific mechanism of zidovudine myopathy.

TL;DR: Disruptions or delays in the switching of all genes coding for adult fast and slow MHC and developmental MHC coincided with dystrophin deletion and with perturbations in its expression.

TL;DR: Cellular and molecular analyses of the multiple types of myoblasts, myosin heavy chain isoforms, and myogenesis regulating proteins of the MyoD family are leading to a new understanding of the events that choreograph the formation of fast and slow motor units.

TL;DR: The case of a 6-yr-old boy who presented with brown urine due to myoglobinuria and who was otherwise virtually asymptomatic was reported to highlight this rare but potentially fatal complication of anaesthesia in muscular dystrophy, and to discuss possible ways of preventing such a catastrophe.

TL;DR: The data show that azathioprine is effective in controlling the disease, both as a single drug as well as in combination with prednisone, and it may be steroid sparing.

TL;DR: It is concluded that in myotonia congenita re-openings of Na+ channels are the major cause of hyperexcitability and that Cl- conductance is normal and if it is reduced in rare cases, it may potentiate the myOTonia.

TL;DR: CoQ levels varied widely from patient to patient, especially in those with chronic progressive external ophthalmoplegia including Kearns-Sayre syndrome, which may explain, at least in part, the variable response of patients to CoQ administration.

TL;DR: The promoter of the 14 kb mRNA encoding the brain isoform of dystrophin in the mouse has been isolated and partially characterized and does not contain a TATA box or other consensus sequences characteristic of the proximal region upstream of the cap sites of eukaryotic genes.

TL;DR: This study confirms strong linkage of the CNM gene to the region Xq28 and will permit carrier testing and prenatal diagnosis in CNM families and concludes that the precise localization of this devastating disorder may be of great importance for genetic counselling in families at risk.

TL;DR: Using a mouse genomic fragment containing the brain-specific promoter region of the dystrophin gene, the brain promoter 75-300 kb proximal of the muscle promoter is located, and the possibility exists that a NH2-terminally truncated dyStrophin has taken over the function of the normal Dystrophins in brain and/or muscle.

TL;DR: One interpretation of these results is that the C-terminus of dystrophin is inserted in the plasma membrane alongside the glycoproteins with which it is tightly associated.

TL;DR: The familial amyloid polyneuropathies (FAP) represent a heterogeneous spectrum of clinical syndromes differing regarding age of onset, rate of progression, and distribution of organ involvement and affecting people from different ethnic groups.

TL;DR: This paper excludes genetic linkage between hypokalemic periodic paralysis (HOKPP) and this sodium channel gene, demonstrating that there is non-allelic genetic heterogeneity among different forms of periodic paralysis.

TL;DR: Two-dimensional gel analysis has revealed that in all cases of X-linked myotubular myopathy the pattern of expression of myosin light chains, tropomyosin and troponin was roughly similar to that of normal age matched control muscle, however, biopsies from infants affected by congenital myotonic dystrophy demonstrated a predominance of most fast contractile protein isoforms.

TL;DR: The results indicate that some myopathies which are clinically localized, may actually have a more widespread patchy involvement as revealed by non-invasive imaging methods.