Showing papers in "Neuromuscular Disorders in 1998"

TL;DR: The hypothesis that oxidative stress may lead to myofiber necrosis in these disorders, including muscular dystrophy due to dystrophin deficiency, is supported using an in vitro assay in which the processes that lead to muscle cell death may be amenable to investigation in a simplified cell culture system.

TL;DR: A new syndrome of autosomal recessive spastic ataxia has been isolated in the Charlevoix-Saguenay region of Quebec and includes: spasticity, dysarthria, distal muscle wasting, foot deformities, truncal ataxIA, absence of sensory evoked potentials in the lower limbs, retinal striation reminiscent of early Leber's atrophy.

TL;DR: In this paper, the mechanical properties and the myosin isoform composition were studied in three isolated muscles (EDL, soleus, diaphragm) of mutant mice lacking both dystrophin and utrophin (dko).

TL;DR: Although ocular myasthenia was more frequent than in later-onset JMG, children with generalized symptoms were often severely affected and respiratory involvement was present in 8/19 patients, and the frequency of immunosuppressive therapy and the rate of good therapeutic results did not differ from those observed in older patients.

TL;DR: It is believed that pain in FSHD is an under-reported but significant symptom and that further work is necessary to determine its prevalence, understand its cause and provide effective treatment.

TL;DR: Observations support other evidence which indicates that chronic fatigue syndrome is a heterogeneous disorder, and confirms the view that some chronic fatigue Syndrome patients have a peripheral component to their fatigue.

TL;DR: It is demonstrated that acute myopathy with loss of myosin filaments may occur in patients with severe systemic illness without exposure to corticosteroids or neuromuscular blocking agents.

TL;DR: The application of retroviral, adenoviral, and herpes simplex viral vectors to deliver genes to skeletal muscle is evaluated and a dramatic loss of viral transduction detected throughout muscle maturation is focused on.

TL;DR: Yeast deficient in the frataxin homologue accumulate iron in mitochondria and show increased sensitivity to oxidative stress, which suggests that Friedreich ataxia is caused by mitochondrial dysfunction and free radical toxicity.

TL;DR: The patient was a heterozygote for exons 50-52 deletion in the dystrophin gene, who had a heart transplant for a severe dilated cardiomyopathy, and showed a non-skewed pattern of X-chromosome inactivation, as in leukocytes and skeletal muscle.

TL;DR: The findings suggest that the pathological mechanism involved in the two diseases are different: central peripheral axonopathy in Friedreich's ataxia and central distal axonopathies in FriedReich'sAtaxia phenotype with selective vitamin E deficiency.

TL;DR: A patient-blind study into the effect of a 10-week cessation of long-term vitamin B6 supplementation on B6 status and performance in McArdle's disease is reported.

TL;DR: The phenotype of autosomal recessive oculopharyngodistal myopathy is distinct from distalmyopathy with rimmed vacuoles and oculophileal muscular dystrophy, but shares some ultrastructural characteristics with distalMyopathy with Rimmed vacUoles and hereditary inclusion body myopathy.

TL;DR: A genome scan with highly polymorphic markers has established linkage for tibial muscular dystrophy (TMD), a recently described late onset distal myopathy, to a novel myopathy locus on chromosome 2q31, indicating one major ancient founder mutation for TMD in Finland.

TL;DR: Interestingly, in addition to the loss of the entire sarcoglycan complex, a reduction of alpha-dystroglycan is detected which suggests a role for the sarcoglyca complex in stabilizing alpha- dystroglecan at the sarcolemma.

TL;DR: Among 80 patients with the clinical and brain imaging characteristics of Leigh's syndrome, 11 patients had a well-known mutation at nucleotide position (nt) 8993 in mitochondrial DNA and three patients hadA T-to-C mutation at nt 9176 which had been described previously in only two brothers with bilateral striatal necrosis and one patient with Leigh’s syndrome.

TL;DR: Data confirm that mutations of the LAMA2 gene that do not completely disrupt the production of the protein can give rise to phenotypes considerably milder than classical merosin-deficient congenital muscular dystrophy.

TL;DR: Three of four MMD pedigrees show non-linkage to the region spanned by D2S134-D2S358-D1S145 on chromosome 2p, indicating genetic heterogeneity, and two non-chromosome 2-linked families, a 23 cM region on chromosome 10 segregated with MMD.

TL;DR: A novel pathogenic mutation, a G-->A transition at position 5521 of mitochondrial tRNA(Trp) gene, was detected in muscle but not in leukocytes from the family's proband, in association with familial late-onset mitochondrial myopathy.

TL;DR: The presence of mild changes in the histochemical reactions of biopsies of both parents of these two children supports the hypothesis that they are carriers of a recessive disease gene mutation responsible for this unusually severe form of central core disease.

TL;DR: Two sporadic and two familial cases showed classic findings of MM, including early adult onset, preferential involvement of gastrocnemius muscles, markedly elevated serum creatine kinase levels and dystrophic-appearing muscle without vacuoles.

TL;DR: In spite of the different time course of the necrosis and regeneration of the muscles, the level of MRF transcripts changed according to a quite predictable pattern; the upregulation corresponded to myoblast activation and the downregulation to the reinnervation.

TL;DR: It is demonstrated that emerin is present in the cheek oral mucosa, in the exfoliating epithelial cells, and the collection of these cells is proposed as a new method for the diagnosis of X-linked EMD patients and the detection of carriers by immunofluorescence techniques.

TL;DR: It is concluded that this finding of deficiency of platelet function in DMD patients is of no importance in everyday life and minor operations, e.g. lower limb surgery, however, in major spinal surgery, the Platelet function deficiency occurs.

TL;DR: Emery-Dreifuss muscular Dystrophy should be considered in the differential diagnosis of cases of early onset muscular dystrophy, even in the absence of the typical clinical features.

TL;DR: Immunocytochemistry is not yet the diagnostic tool that it is for the muscular dystrophies, but nevertheless it provides useful information on the nature of the structural defects that define each congenital myopathy, and on the additional secondary changes that accompany them.