Showing papers in "Neuromuscular Disorders in 1999"

TL;DR: Molecular intervention at dystrophin pre-mRNA splicing has the potential to reduce the severity of a Duchenne mutation to the milder Becker phenotype.

TL;DR: The data suggest that the presence of blood borne macrophages is required for triggering the earliest events of skeletal muscle regeneration, and the understanding of macrophage behaviour after muscle injury should allow us to develop future strategies of satellite cell transplantation as a treatment for muscular dystrophies.

TL;DR: This study underlines that cardiac involvement is part of the dystrophinopathies and implicates that a complete cardiological evaluation should be performed at least once in all carriers, in order to start timely therapy.

TL;DR: In dermatomyositis, the upregulated TNF-R75, via its consensus elements for transcription factors, may be involved in endothelial cell degeneration, and this work immunolocalized T NF-alpha and its receptors in polymyposis, inclusion body myositis and dermatomyosis.

TL;DR: The findings suggest that TGF-beta1 is involved in CMD muscle fibrosis, but differently from what was observed in DMD muscles as it seems not to be the major player in connective tissue proliferation.

TL;DR: The molecular basis for skeletal myopathy and dilated cardiomyopathy in two male German short-haired pointer (GSHP) littermates is determined and a visible deletion in the p21 region of the affected canine X chromosome is confirmed.

TL;DR: One proband, who was not noted to have any weakness neonatally, but who died at 21 months of age, was shown to be homozygous for a single strand conformation polymorphism in skeletal-muscle-specific exon 1 of TPM3, and should have no functioning alpha-tropomyosin slow protein.

TL;DR: The aim of this review is to attempt a genotype-phenotype correlation and speculate on common pathogenic mechanisms underlying this disease.

TL;DR: A second form of myotonic dystrophy is reported in the MN1 kindred, which may help resolve the confusion about how the CTG repeat expansion in the 3' untranslated portion of the myotonin protein kinase gene causes the multisystem involvement of DM.

TL;DR: It is demonstrated that a range of structural malformations can also be found in a significant number of children with merosin-deficient CMD, including cerebellar hypoplasia with variable involvement of the pons and neuronal migration defects.

TL;DR: Direct sequencing of the emerin gene in 22 families with Emery-Dreifuss muscular dystrophy revealed mutations in 21 (95%), confirming that emerin mutations can be identified in the majority of families with X-linked EMD.

TL;DR: The results indicate that at least three genetic loci exist for autosomal recessive nemaline myopathy, and studies of additional families are needed to localise the as yet unknown causative genes, and to fully elucidate genotype-phenotype correlations.

TL;DR: It is hypothesize that the expression ofalpha5 in many dystrophies reflects the regenerative process, whereas the selective expression of alpha4 in alpha2-deficient muscle is a specific compensatory response to loss of alpha2.

TL;DR: A homozygous mutation is reported in the promoter region of the AChR epsilon subunit gene that converts the Ets-binding site of the promoter area from CGGAA to CAGAA, which readily accounts for the congenital myasthenic phenotype.

TL;DR: There was a significant difference in disease status, (with and without neuromuscular disease), between children with a normal, grade I, scan and those with an abnormal, grade II, III, IV, image.

TL;DR: Western blot and immunohistochemistry show an absence of emerin in muscle and skin tissues and oral exfoliating cells in male patients with X-EDMD, and a reduction of the protein content with a mosaic expression pattern in female carriers.

TL;DR: The clinical description and the molecular characterization of the defect in a two-generation Italian family in which a Gly-->Arg substitution disrupts the triple helix structure of the alpha 3 chain of collagen type VI, an ubiquitous glycoprotein of the extracellular matrix are reported.

TL;DR: Two hundred and thirteen of 428 patients with Duchenne muscular dystrophy of a prospective and open study were operated on bilaterally with hip and knee release, aponeurectomy of the iliotibial band and Achilles tendon lengthening, showing that early lower limb surgery leads to a prolongation of independent ambulation of 1.25 years on average.

TL;DR: In conclusion, severe heart failure due to dilated cardiomyopathy may be the initial manifestation of Becker's muscular dystrophy and may predate neuromuscular symptoms for years.

TL;DR: Direct sequence analysis of the genomic regions coding the peripheral myelin proteins P0 and PMP22 disclosed a heterozygous missense point mutation that leads to a Ser72Leu substitution in the second transmembrane of PMP 22.

TL;DR: It is shown that mdx3cv mice may display similar or weaker deficits during the learning of a bar-pressing task, as compared to mdx mice, and the relevance of the m dx3cv mutant as a model to study the cognitive deficits associated with DMD is discussed.

TL;DR: In both patients the rippling phenomena worsened with pyridostigmine treatment but markedly improved after immunosuppression with azathioprine, and Acetylcholine receptor and anti-skeletal muscle antibody titers were positive.

TL;DR: Analysis of DNA marker haplotypes and genetic cross-over sites showed the HMSN-P gene almost certainly lies on chromosome 3q13.1 and shows evidence of linkage disequilibrium.

TL;DR: The heterogeneity of the mutations, their mutational origins, and the varied ethnic backgrounds of the patients, indicate that the majority of XLMTM families are affected by unique MTM1 mutations.

TL;DR: A patient with a lymphoepithelial thymoma who developed in chronological sequence limbic encephalitis, neuromyotonia and myasthenia gravis is reported, which improved after surgery and cytotoxic therapy.

TL;DR: A patient who suffered from impaired ocular motility from age 10 years and at 16 years developed ptosis, proximal weakness and progressive fatigability and at 35 years she developed massive myoclonic jerks, and head and distal tremor is described.

TL;DR: A role of IGF-I in the high regenerative potential of muscles from mdx mice is suggested and the hypothesis that the biophysical and pharmacological properties of chloride channels of extensor digitorum longus muscle fibers are sensitive indices of the action of regeneration-promoting factors on muscle function is supported.