Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fukuyama-type congenital muscular dystrophy (FCMD), the second most common form of childhood muscular dystrophy in Japan, is an autosomal recessive severe muscular dystrophy associated with an anomaly of the brain. After our initial mapping of the FCMD locus to chromosome 9q31-33, we further defined the locus within a region of approximately 5 cM between loci D9S127 and CA246, by homozygosity mapping in patients born to consanguineous marriages and by recombination analyses in other families. We also found evidence for strong linkage disequilibrium between FCMD and a polymorphic microsatellite marker, mfd220, which showed no recombination and a lod score of (Z) 17.49. A "111-bp" allele for the mfd220 locus was observed in 22 (34%) of 64 FCMD chromosomes, but it was present in only 1 of 120 normal chromosomes. This allelic association with FCMD was highly significant (chi 2 = 50.7; P < .0001). Hence, we suspect that the FCMD gene could lie within a few hundred kilobases of the mfd220 locus.
 ...
PMID:Refined mapping of a gene responsible for Fukuyama-type congenital muscular dystrophy: evidence for strong linkage disequilibrium. 797 57

The absence of dystrophin causes Duchenne muscular dystrophy. Dystrophin is associated with a large complex of sarcolemmal glycoproteins which provides a linkage to the extracellular matrix component, laminin, and when dystrophin is absent all the dystrophin-associated proteins are much reduced. We report here that dystrophin-associated proteins have abnormally low expression in Fukuyama-type congenital muscular dystrophy (FCMD), despite near-normal expression of dystrophin. An abnormality of dystrophin-associated proteins in the sarcolemma seems to be a common denominator in the pathological processes leading to muscle cell necrosis in three forms of severe muscular dystrophy (Duchenne, Japanese Fukuyama-type, and north African Duchenne-like autosomal recessive).
 ...
PMID:Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy. 810 57

The dystrophin-glycoprotein complex is considered to be a major trans-sarcolemmal structure which provides a linkage between the subsarcolemmal actin cytoskeleton and the extracellular matrix component laminin. Recently, deficiency of the dystrophin-associated proteins has been shown to play an important role in the molecular pathogenesis of several forms of muscular dystrophy. These include Duchenne muscular dystrophy (DMD), symptomatic DMD carriers, Becker muscular dystrophy and severe childhood autosomal recessive muscular dystrophy with DMD-like phenotype prevalent in North Africa. In Fukuyama-type congenital muscular dystrophy (FCMD), the finding of abnormal expression of the dystrophin-associated proteins may provide a clue to its molecular pathogenesis. These recent findings indicate that the linkage between the subsarcolemmal cytoskeleton and extracellular matrix via the dystrophin-glycoprotein complex is critical for maintaining the integrity of muscle cell function.
 ...
PMID:The role of the dystrophin-glycoprotein complex in the molecular pathogenesis of muscular dystrophies. 818 6

To address potential involvement of muscle basal lamina and membrane cytoskeleton proteins in the etiology of non-dystrophinopathy muscular dystrophies, we examined the immunostaining intensity and distribution of laminin subunits (A, B1, B2 and M), type IV collagen, dystrophin and spectrin in skeletal muscle biopsies from 64 myopathic patients (17 Fukuyama congenital muscular dystrophy: FCMD, 13 congenital muscular dystrophy unrelated to FCMD: other CMD, 16 Duchenne muscular dystrophy: DMD, and 18 other neuromuscular diseases. In FCMD muscle, we found a significant reduction of laminin M (merosin; a striated muscle specific basal lamina-associated protein) with approximately 26% of levels seen in controls by quantitative immunofluorescence. Other CMD and DMD muscles showed less dramatic reductions (78%, 80%, respectively). The localization of laminin M was also abnormal in FCMD muscle. Laminin B1 and B2 showed abnormalities similar to those observed with laminin M, but were less marked. Laminin A was only detected in rare regenerating fibers in control biopsies, whereas it was seen around most muscle fibers in FCMD patients, and in dystrophin deficient muscle fibers from DMD patients and its carrier. Staining intensity of type IV collagen in FCMD muscle was not significantly different from the other diseases. These findings may implicate a primary or central role for the basal lamina in FCMD muscle.
 ...
PMID:Abnormal localization of laminin subunits in muscular dystrophies. 824 11

Fukuyama type congenital muscular dystrophy (FCMD) is an autosomal recessive severe muscular dystrophy associated with an anomaly of the brain. Twenty-one FCMD families, 13 of them with consanguineous marriages, were analysed by genetic linkage analyses with polymorphic microsatellite markers to map the FCMD gene. Significant lod scores were obtained with the markers D9S58 (Zmax = 5.81 at theta = 0.06), D9S59 (Zmax = 4.33 at theta = 0.02), and HXB (Zmax = 3.28 at theta = 0.09) on chromosome 9q31-33. Multipoint analysis placed FCMD between D9S58 and D9S59, with a maximum lod score of 16.93. These markers will be useful for presymptomatic, prenatal and carrier diagnosis of family members carrying FCMD, and they represent important resources for the identification of a gene responsible for FCMD.
 ...
PMID:Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. 827 93

There have been numerous reports as well as case presentations, in the field of clinical research since Fukuyama type congenital muscular dystrophy (FCMD) was first reported by Fukuyama et al. as a peculiar form of congenital progressive muscular dystrophy (CMD). Toda et al. localized the FCMD gene locus to chromosome 9q31-33 using genetic linkage analysis. Clinical application of molecular genetic studies is a new and exciting aspect of FCMD research. The author reviewed the literature and discusses herein: [1] the classification of CMD and the position of FCMD, [2] researches on the pathogenesis and pathophysiology of FCMD, [3] DNA diagnosis using polymorphism analysis (carrier diagnosis and prenatal diagnosis), [4] approaches to clinical heterogeneity in FCMD, [5] the difference between FCMD and Walker-Warburg syndrome. In addition, data accumulated by the authors are presented.
 ...
PMID:[Recent advances in Fukuyama type congenital muscular dystrophy]. 853 9

Considerable advances in the understanding of congenital muscular dystrophy made during the past year may allow a new clinical classification of this disease. In particular, (1) evidence has accumulated to suggest that a laminin alpha2-chain (alpha2 subunit of laminin-2 or merosin) deficiency causes a type of congenital muscular dystrophy, and (2) it has been postulated that Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome (but not Finnish muscle-eye-brain disease) are genetically identical diseases.
 ...
PMID:Congenital muscular dystrophies. 854 45

We report a female infant with non-Fukuyama-type congenital muscular dystrophy with merosin deficiency. She manifested marked hypotonia and muscle weakness from the neonatal period, with an elevated creatine kinase concentration. Her motor developmental milestones were markedly delayed; however, her intellectual development was normal. Although cranial computed tomography (CT) at 3 months of age was normal, subsequent CT at 16 months of age demonstrated diffuse, abnormal white matter lucencies. Muscle biopsy findings at 16 months of age were compatible with those of congenital muscular dystrophy. In addition, no muscle fibers were immunostained by the merosin antibody. The patient died of pneumonia at 23 months of age. These clinical symptoms and CT findings are similar to those described in patients with merosin-negative congenital muscular dystrophy in European countries.
 ...
PMID:Merosin-negative non-Fukuyama-type congenital muscular dystrophy: a case report. 873 5

Fukuyama type congenital muscular dystrophy (FCMD) is an autosomal recessive muscular dystrophy associated with an anomaly of the brain. We performed genetic linkage analyses using consanguineous FCMD families and localized the FCMD locus to chromosomes 9q31-33. We further defined the locus within a region of 5 cM and also found strong linkage disequilibrium between FCMD and mfd220. We suspect that the FCMD gene could lie within one megabases of the mfd220 locus located on 9q31. This achievement made prenatal and carrier diagnosis in families carrying FCMD feasible. However, in principle, it is impossible to diagnose whether a patient has FCMD or not, since this is an indirect genetic diagnosis by polymorphisms analysis. It has been discussed whether FCMD and Walker-Warburg syndrome (WWS) belong to the same disease entity or not. We analyzed a family in which 3 siblings were affected with either FCMD or WWS. The results suggested that both FCMD and WWS siblings shared the identical combination of mutations on either allele of the FCMD locus. Some WWS cases could be caused by mutations in the FCMD gene. A novel clinical entity of merosin-negative CMD was proposed out of classical, non-Fukuyama CMD cases. This condition mapped to 6q2, the merosin gene region. CMD researches are in rapid progress.
 ...
PMID:[Recent progress, genetic diagnosis and its problem on congenital muscular dystrophies (Fukuyama and non-Fukuyama types)]. 875 16

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.
 ...
PMID:[Imaging and pathological studies on the esophageal dysfunction in patients with myotonic dystrophy]. 875 84


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>