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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Myotonic dystrophy (DM) is the most common muscular dystrophy affecting adults among Caucasian and Japanese populations, with an average incidence of 12.5 in 100,000 in Caucasians and 5.5 in 100,000 in the Japanese. Recently the DM gene was cloned and characterized showing homology with the family of serine-threonine protein kinase. In DM patients expansion of an unstable trinucleotide CTG repeat, located within the 3' untranslated region of DM kinase gene, is involved. In this review we outline the molecular biological aspects of DM including DNA diagnosis, anticipation, differences between paternal and maternal transmission, founder chromosome and expression of the gene.
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PMID:[Advances in molecular genetics of myotonic dystrophy]. 841 31

The continuous curvilinear capsulorhexis has rapidly increased in popularity as the procedure of choice when using phacoemulsification for cataract extraction. Only recently, however, have complications of this technique been reported. We review the complications of a continuous curvilinear capsulorhexis and present three cases involving progressive constriction of the postoperative anterior capsular opening. One patient had a history of myotonic muscular dystrophy, another had pars planitis, and the third had high myopia. A review of ocular findings in myotonic dystrophy and pars planitis is also presented, and the possible pathophysiology of this progressive constriction is explored.
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PMID:Progressive constriction of the anterior capsular opening following intact capsulorhexis. 842 8

Thirty-four biopsied muscles of Duchenne, Becker and congenital muscular dystrophy, congenital myotonic dystrophy and amyotrophic lateral sclerosis were examined by an immunocytochemical method with an anti-dystrophin-related protein (DRP) antibody. Strongly positive immunoreaction to DRP at the neuromuscular junctions in all biopsied specimens and faint reaction on the surface membrane of atrophic fibers in amyotrophic lateral sclerosis suggest that DRP is an anchor protein of the acetylcholine receptor. Additionally, the surface membrane of muscle fibers of Duchenne muscular dystrophy was positively stained. DRP is, therefore, thought to be expressed to compensate for dystrophin deficiency in these muscle fibers.
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PMID:Dystrophin-related protein in skeletal muscles in neuromuscular disorders: immunohistochemical study. 846 May 31

We report two cases of intestinal pseudoobstruction caused by visceral smooth muscle involvement due to myotonic muscular dystrophy. Two patients with myotonic muscular dystrophy presented with abdominal pain, distention, constipation, and vomiting. The exclusion of mechanical obstruction by plain abdominal radiography, contrast studies, and colonoscopy led to the diagnosis of intestinal pseudoobstruction. Diagnosis was confirmed by manometric and cineradiographic findings of abnormal intestinal motility. Conservative management including laxatives and cisapride led to the resolution of the pseudoobstruction syndrome and long-term remission without relapses during a two year follow-up. In patients with known myotonic dystrophy the occurrence of intestinal pseudoobstruction should be considered in order to avoid unnecessary laparotomies.
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PMID:Intestinal pseudoobstruction as a feature of myotonic muscular dystrophy. 852 57

Myotonic muscular dystrophy is an autosomal dominant defect that produces muscle wasting, myotonia, and cardiac conduction abnormalities. The myotonic dystrophy locus codes for a putative serine-threonine protein kinase of unknown function. We report that overexpression of human myotonic dystrophy protein kinase induces the expression of skeletal muscle-specific genes in undifferentiated BC3H1 muscle cells. BC3H1 clones expressing myotonic dystrophy kinase appear equivalent to differentiated cells with respect to expression of myogenin, retinoblastoma tumor supressor gene, M creatine kinase, beta-tropomyosin, and vimentin. In addition, differential display analysis demonstrates that the pattern of gene expression exhibited by myotonic dystrophy kinase-expressing cells is essentially identical to that of differentiated BC3H1 muscle cells. These observations suggest that myotonic dystrophy kinase may function in the myogenic pathway.
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PMID:Overexpression of myotonic dystrophy kinase in BC3H1 cells induces the skeletal muscle phenotype. 855 Jun 17

The purpose of this study is to clarify a correlation between the esophageal dysfunction and suffocation after meals in patients with myotonic dystrophy (MD) and to find how to prevent such accidents. Using imaging methods, we examined eight patients with MD (six of them had difficulty in swallowing), four patients with other neuromuscular diseases (Fukuyama-type congenital muscular dystrophy, congenital myopathy, Machado-Joseph disease, and Duchenne's muscular dystrophy), and two healthy control subjects. We also investigated material from an autopsy of another patient with MD who died of suffocation. In all patients with MD, fluoroscopy and computed tomography showed dilatation of the esophagus, particularly in the proximal third, and residual contrast media in the esophagus 15 to 40 minutes after swallowing. In histologic studies, morphologic changes were confined to the esophageal striated muscle in a patient with MD. These results indicate that regurgitation from the esophagus to the trachea happens more than 40 minutes after swallowing in patients with MD and that histological alterations of striated muscle are primary causes of the esophageal dysfunction. From these findings, we propose that patients with MD should not lie down at least 40 minutes after meals whether they complain of difficulty in swallowing or not.
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PMID:[Imaging and pathological studies on the esophageal dysfunction in patients with myotonic dystrophy]. 875 84

The spectacular progress concerning dystrophin and its pathology, the dystrophinopathies, has led to a somewhat arbitrarily separated heterogeneous group of nondystrophinopathic muscular dystrophies that currently comprise the Emery-Dreifuss type, the nosologically heterogeneous autosomal-recessive limb-girdle muscular dystrophy, the severe childhood autosomal-recessive muscular dystrophy, the merosin-positive and -negative congenital muscular dystrophies, the autosomal-recessive distal muscular dystrophy of Miyoshi, the facio-scapulo-humeral muscular dystrophy, and myotonic dystrophy, both the adult and neonatal variants. Deficiencies of adhalin in a particular form of limb-girdle muscular dystrophy, and of merosin in a particular form of congenital muscular dystrophy as well as the newly discovered principle of abnormal tri-nucleotide repeats in myotonic dystrophy are evidence of progress that has also amplified the notion of the dystrophinopathies that the protein-deficient muscular dystrophies can now be considered examples of contributions of the dystrophin-glycoprotein complex across the muscle fiber plasma membrane.
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PMID:Nondystrophinopathic muscular dystrophies including myotonic dystrophy. 879 45

The most common adult form of muscular dystrophy, myotonic dystrophy, is due to a triplet repeat (CTG) expansion in the 3' untranslated region of the myotonic dystrophy gene. Although this gene is known to encode a protein kinase, the mechanism by which a defect in this gene results in a disease state is not understood. To gain insight into this mechanism, the yeast two hybrid system was utilized to identify proteins which interact with myotonic dystrophy protein kinase. Eight positive clones were identified that interact specifically with the myotonic dystrophy protein kinase. One clone, which encodes a novel protein interacting with myotonic dystrophy protein kinase both in vivo in yeast and in vitro, was characterized further. The gene encoding this protein may represent a member of a small gene family, and the protein (95 amino acids) exhibits a high degree of homology to an snRNP protein, D1. This novel protein may be a member of the signal transduction pathway which is responsible for the manifestation of this disease.
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PMID:Identification of a novel protein, DMAP, which interacts with the myotonic dystrophy protein kinase and shows strong homology to D1 snRNP. 885 85

Myotonic dystrophy (MD), an autosomal dominant multisystemic disorder with a high phenotypic variability, is the most common muscular dystrophy in adult life. The mutation underlying DM has been characterized as an expanded CTG trinucleotide repeat sequence in the 3 untranslated region of a protein kinase gene on chromosome 19q13.2-13.3. We have analyzed the presence of CTG intergenerational variations on transmission in parent-child pairs affected with DM. The series includes 90% of all living affected descendants (symptomatic or asymptomatic) from a given myotonic dystrophy (DM) patient. A contraction of the CTG repeat size was observed in ten parent-child pairs (14.1%) and remained unchanged in five (7%) pairs. The number of CTG repeats decreased in 2/30 maternal transmissions (6.7%) and in 8/41 paternal transmissions (19.5%). We found 14 asymptomatic individuals carrying the CTG expansion among the offspring. In six of them, a contraction of the CTG repeat was observed, and in all six cases, the DM allele was paternally transmitted. Since nearly all the asymptomatic family members of DM patients were analyzed in this series, the observed percentage of contractions can be considered more realistic, even though the number of parent-child pairs is small.
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PMID:Frequency of intergenerational contractions of the CTG repeats in myotonic dystrophy. 890 94

Myotonic dystrophy is a dominantly inherited clinically variable multisystemic disorder, and has been found to be caused by heterozygosity for a trinucleotide repeat expansion mutation in the 3' untranslated region of a protein kinase gene (DM kinase). The mechanisms by which the expanded repeat in DNA results in a dominant biochemical defect and the varied clinical phenotype, is not known. We have recently proposed a model where disease pathogenesis may occur at the RNA level in myotonic dystrophy: the mutant DM kinase RNA with the expansion mutation may disrupt cellular RNA metabolism in some general manner, as evidenced by defects in RNA processing of the normal DM kinase gene in heterozygous patients (dominant negative RNA mutation). Here we further test this hypothesis by measuring RNA metabolism of other genes in patient muscle biopsies (nine adult onset myotonic dystrophy patients, two congenital muscular dystrophy patients, four normal controls, and four myopathic controls). We focused on the insulin receptor gene because of the documented insulin resistance of DM patients. We show that there is a significant decrease in insulin receptor RNA in both total RNA and RNA polyA+ pools relative to normal and myopathic control muscles (P < 0.002), measured relative to both dystrophin RNA and muscle sodium channel RNA. We also show reductions in insulin receptor protein. Our results reinforce the concept of a generalized RNA metabolism defect in myotonic dystrophy, and offer a possible molecular mechanism for the increased insulin resistance observed in many myotonic dystrophy patients.
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PMID:RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance. 912 13


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