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

In our experience, more than half of muscular dystrophy patients show a primary dystrophinopathy. The underlying cause of muscular dystrophy in the vast majority of patients with normal dystrophin is unknown. Recently, a French family with 4 young siblings showing a muscular dystrophy of unknown progression was shown to have a primary deficiency of "adhalin," the 50-kd dystrophin-associated protein. Here we report the screening of the entire adhalin coding sequence in muscle biopsy specimens from 30 muscular dystrophy patients to (1) determine whether adhalin deficiency is restricted to the French population, (2) determine the incidence of adhalin deficiency in muscular dystrophy patients, and (3) characterize the clinical features and mutations in adhalin-deficient patients. We identified a single African-American girl with childhood-onset muscular dystrophy and adhalin gene mutations. We found her to be a compound heterozygote for two different mutations of the same amino acid (Arg98Cys; Arg98His), one of which was previously identified in the French family. Our results suggest that primary adhalin deficiency in patients with muscular dystrophy but normal dystrophin is relatively infrequent, and that adhalin-deficient patients are not restricted to the French population.
Ann Neurol 1995 Sep
PMID:Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin. 766 18

Fifteen pediatric femoral fractures in 14 patients were treated with external fixation using the EBI Orthofix unilateral external fixator. The average patient age was 8.5 years (range, 3-13 years). There were 7 children with multiple injuries and 7 with isolated fractures. The average duration in the fixator was 63 days; average followup was 34 months. All 15 fractures healed without additional operative intervention. Average angulation at the fracture site was 4.4 degrees in the anteroposterior plane (range, 0 degrees-10 degrees) and 4.6 degrees in the lateral plane (range, 0 degrees-11 degrees). There were 5 pin tract infections, all of which resolved with systemic antibiotics. There was 1 case of refracture in a boy with muscular dystrophy. Ten patients had clinically equal leg lengths, 3 patients had < 1 cm of inequality, and 1 patient had a 1.5 cm discrepancy. External fixation is a well-proven technique for managing pediatric femoral fractures in the child with multiple injuries. It is also an effective means of treating isolated femoral fractures in the pediatric population.
Clin Orthop Relat Res 1995 Sep
PMID:External fixation of pediatric femoral fractures. 767 16

1. Attachment to extracellular matrix is thought to be particularly important for striated muscle cells, since skeletal and heart muscle have to withstand considerably strong forces. 2. We have recently shown that a defect in a protein of the muscle basement membrane, M-laminin, is correlated with muscular dystrophy in human and mouse. The disease associated with defects in M-laminin is thus analogous to that caused by defects in the cytoskeletal protein, dystrophin, the Duchenne/Becker muscular dystrophy. 3. One may propose the hypothesis that a pathway of interacting proteins is required to connect the cytoskeleton of the muscle fiber to the extracellular matrix, and that a defect in any protein in this chain would result in severe impairment of muscle cell attachment with resulting muscle damage upon use of the muscle. The existence of such chains of proteins may be expected from known mutations in muscle proteins in Drosophila and Caenorhabditis elegans. Some of these mutations cause phenotypes resembling muscular dystrophy in mammals. 4. It will be important to identify all the proteins that are participants in muscle cell attachment, including receptors for M-laminin and proteins associated with these receptors.
Braz J Med Biol Res 1994 Sep
PMID:Cell adhesion in muscle. 778 6

1. MDX mice derived from a colony of C57BL/10ScSn mice develop an X-linked recessive muscular dystrophy, thus providing an adequate model to study the pathogenesis of muscular dystrophy. 2. Skeletal myofibers of MDX mutant mice were heterogeneous, with disorganization of myofilaments and the absence of immunolabelling for dystrophin with monoclonal antibody DY4/6D3. 3. Marked deposition of reticulin, collagenic fiber (types, I, IV) and laminin (LN) were consistently present mostly around lesioned and necrotic myofibers associated with an intense inflammatory reaction, whereas strong immunolabelling for TIII-C, TIV-C and FN was often associated with regenerated fibers. 4. During the onset (3 weeks of postnatal life) of disease and height of myonecrosis (5-6 weeks of postnatal life), popliteal lymph nodes showed dense argyrophilic meshwork, intense immunolabelling for collagens types I and IV, FN, LN and enlargement of the hili which were packed with mononuclear cells. Such alterations, albeit less intense, were still observed in MDX mice with 20 weeks of postnatal life. 5. The results support the view that ECM components might be influencing the migration of inflammatory cells and the process of myonecrosis in the skeletal muscle of MDX dystrophic mice.
Braz J Med Biol Res 1994 Sep
PMID:Altered deposition of extracellular matrix components in the skeletal muscle and lymph node of the MDX dystrophic mouse. 778 7

We report a Japanese boy with muscular dystrophy whose clinical symptoms were intermediate between those usually considered typical of Duchenne and Becker muscular dystrophies. The patient had a large inframe deletion extending from exons 3 to 41 of the dystrophin gene, which would be expected to cause the production of a dystrophin protein composing only 53% of the normal polypeptide chain. Such an inframe deletion would be expected to cause Becker muscular dystrophy. We did not obtain evidence for alternative splicing or for RNA editing. Immunocytochemical analysis of skeletal muscle showed that a dystrophin-related polypeptide was detectable with antibody directed against the carboxyl-terminal part of the polypeptide but not with antibodies directed against the amino-terminal part, although labeling by antibody against the carboxyl-terminal was faint and patchy. The severity of the disease in this case may be due to the lack of the amino-terminal, actin-binding domain of dystrophin.
Neurology 1994 Sep
PMID:Amino-terminal deletion of 53% of dystrophin results in an intermediate Duchenne-Becker muscular dystrophy phenotype. 793 90

Mutations in the Caenorhabditis elegans gene mec-8 were previously shown to cause defects in mechanosensation and in the structure and dye filling of certain chemosensory neurons. Using noncomplementation screens, we have identified eight new mec-8 alleles and a deficiency that uncovers the locus. Strong mec-8 mutants exhibit an incompletely penetrant cold-sensitive embryonic and larval arrest, which we have correlated with defects in the attachment of body muscle to the hypodermis and cuticle. Mutations in mec-8 strongly enhance the mutant phenotype of unc-52(viable) mutations; double mutants exhibit an unconditional arrest and paralysis at the twofold stage of embryonic elongation, a phenotype characteristic of lethal alleles of unc-52, a gene previously shown to encode a homolog of the core protein of heparan sulfate proteoglycan, found in basement membrane, and to be involved in the anchorage of myofilament lattice to the muscle cell membrane. We have identified and characterized four extragenic recessive suppressors of a mec-8; unc-52(viable) synthetic lethality. The suppressors, which define the genes smu-1 and smu-2, can weakly suppress all mec-8 mutant phenes. They also suppress the muscular dystrophy conferred by an unc-52(viable) mutation.
Genetics 1994 Sep
PMID:The mec-8 gene of Caenorhabditis elegans affects muscle and sensory neuron function and interacts with three other genes: unc-52, smu-1 and smu-2. 800 96

EM study of cultured human skeletal muscle explants on 10 consecutive days after incubation made possible a record for the first time, the early events occurring during regeneration. After incubation, normal myonuclei underwent activation and dense granulation. Some myonuclei showed early transformation to presumptive myoblasts. The conclusion was that myonuclei transformed into myoblasts which developed into satellite cells (SC). These SC of myonuclear origin, proliferated, and fused forming myotubes that matured into myofibres, replacing damaged muscle. The findings have new implications for the current myoblast/cell transplant and gene transfer therapy research which may provide possible answers for muscular dystrophy in the future.
Cell Biol Int 1993 Sep
PMID:EM evidence of myoblast origin in regenerating human skeletal muscle explants. 822 Mar 8

We have recently demonstrated the specific deficiency for the 50 kDa dystrophin-associated glycoprotein (50DAG) in Algerian patients afflicted with severe childhood autosomal recessive muscular dystrophy with DMD-like phenotype (SCARMD). A similar disease affecting Tunisian patients was linked to chromosome 13q but the status of the 50DAG was not investigated. Here we show by linkage analysis of Algerian families that the genetic defect which leads, either directly or indirectly, to the deficiency of the 50DAG in skeletal muscle is localized to the proximal part of chromosome 13q. We have not found any evidence of genetic heterogeneity among the thirteen families studied. It remains to be demonstrated whether the 50DAG gene maps at 13q12, and to determine if it is mutated in this disease.
Hum Mol Genet 1993 Sep
PMID:Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12. 824 65

Using muscle as an in vivo model system, we have tested the hypothesis that basic fibroblast growth factor is released from a cytoplasmic storage site into the extra-cellular environment via diffusion through survivable, mechanically-induced plasma membrane disruptions. Normal and dystrophic (mdx) mouse muscle were studied. Strong immunostaining for bFGF was detected in the cytoplasm of myofibers of uninjured muscle fixed in situ by perfusion. By contrast, myofibers did not stain cytoplasmically for bFGF after suffering lethal disruptions of their plasma membranes caused by freezing and thawing followed by sectioning. Sub-lethal, transient disruptions of myofiber plasma membranes--termed plasma membrane 'wounds'--were shown to be induced by needle puncture or exercise of muscle. Quantitative image analysis revealed that these wounded fibers contained significantly reduced levels of bFGF. Dystrophic exercised and unexercised muscle was found to possess an approximately 6-fold higher proportion of wounded myofibers than does normal muscle under equivalent conditions. Release of bFGF at a rate that is a direct function of the frequency of myofiber wounding may explain in part how a muscle adjusts its growth to meet changing mechanical demand as well as the pathological hypertrophy characteristic of certain stages of muscular dystrophy.
J Cell Sci 1993 Sep
PMID:Loss of cytoplasmic basic fibroblast growth factor from physiologically wounded myofibers of normal and dystrophic muscle. 827 Jun 18

The sympathetic skin response (SSR) was evaluated in 25 patients with amyotrophic lateral sclerosis (ALS) to assess for involvement of the autonomic nervous system. Twenty-two age-matched normals and 6 patients with muscular dystrophy served as controls. The SSR was intact in all normal volunteers and all patients with muscular dystrophy. The mean SSR latency in the ALS patients was prolonged compared to that of normals (2.29 +/- 0.28 versus 2.13 +/- 0.16 s, P < 0.05). The SSR was absent in one or both legs of 10 ALS patients (40%). Absence or abnormal latency of SSR in patients with ALS without clinical findings of autonomic failure suggests involvement of the autonomic nervous system in addition to the motor system.
Muscle Nerve 1993 Sep
PMID:Sympathetic skin response abnormalities in amyotrophic lateral sclerosis. 804 10


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