更多资讯

Progressive muscle wasting, which leads to severe disability and early death, make Duchenne and Becker muscular dystrophies (DMD/BMD) highly distressing disorders to both patient and family. Diagnosis in pregnancy, therefore, is frequently considered by couples in which the woman ...

Immunohistochemistry/immunocytochemistry (ICC) and allied techniques are used to visualize and localize specific tissue components. The principle of ICC is the binding of an antibody (Ab) to a specific antigen. Allied techniques include the labeling of glycoproteins with lect ...

The gene involved in Duchenne and Becker muscular dystrophies (DMD/ BMD) was the first human gene to be successfully identified by the approach of reverse genetics, or positional cloning (1), leading to the recognition of this approach as a valid and useful way of identifying genes for which the bio ...

In the decade following the identification of mutations in the dystrophin genein Duchenne (1) and Becker (2) muscular dystrophies (DMD/BMD), defects in components of the dystrophin-glycoprotein complex (DGC), which links F-actin in the cytoskeleton with laminin in the extra cellular ...

The large majority of situations in which prenatal diagnosis is applied in the muscular dystrophies (MDs) is for Duchenne muscular dystrophies (DMD). Hence, discussion of fetal muscle biopsy in this chapter is limited to DMD, although, in principle, it should be applicable to any other primary ...

Protein analysis usually requires the application of immunological techniques, and, in the preceding chapter, the use of antibodies (Abs) to label proteins in tissue sections has been described. Proteins in unfixed frozen sections are in near native form, and analysis of proteins in these c ...

The inadequacy of conventional histological and histochemical examination for many aspects of the differential diagnosis of the muscular dystrophies (MDs) is well recognized. However, as specific antibodies (Abs) have become available to the proteins and glycoproteins that are ...

The term “muscular dystrophy” (MD) describes a group of primary genetic disorders of muscle that often have a distinctive and recognizable clinical phenotype, accompanied by characteristic, but frequently not pathognemonic, pathological features. Research into the molecular ...

Mutations in the gene that encodes the protein, dystrophin, underlie the allelic disorders, Duchenne and Becker muscular dystrophy (DMD/BMD). Although the complete spectrum of mutations has not been fully defined, the largest category of mutation is one of intragenic deletion (1,2), and t ...

Although facioscapulohumeral muscular dystrophy (FSHD) is genetically heterogeneous, in 97% of cases the disease is associated with a submicroscopic rearrangement on 4q35 (FSHD1). This rearrangement is the result of deletions of an integral number of tandemly arrayed 3.3-kb repe ...

The limb-girdle muscular dystrophies (LGMDs) are generally characterized by weakness and atrophy of the proximal muscles. In 1994, the authors localized a form of autosomal recessive LGMD (LGMD2B) to chromosome 2p13 (1). Patients with LGMD2B have proximal muscle weakness with onset in t ...

Limb-girdle muscular dystrophy 9LGMD) type 2A (LGMD2A; MIM253600) is an autosomal recessive disorder belonging to the group of progressive MDs. LGMD2A is characterized by symmetrical atrophy of the pelvic, scapular, and trunk muscles, elevated serum creatine kinase and a necrotic-r ...

Limb-girdle muscular dystrophies (LGMDs) constitute a clinically and genetically heterogeneous group of inherited diseases. In the past few years, four autosomal recessive forms have been demonstrated to result from mutations in the genes encoding dystrophin-associated gl ...

Direct mutation analysis in the genes for β- and γ- sarcoglycan (SG) is performed in a patient in whom a type of autosomal recessive limb-girdle muscular dystrophy (LGMD) affecting the SG complex is suspected. Ideally, this suspicion should have been substantiated by analysis of the SG complex us ...

Genetic defects of the sarcoglycan (SG) complex (sarcoglycanopathies) are found in patients with autosomal recessive muscular dystrophies (1–6). αSG (50 kDa dystrophin-associated glycoprotein, adhalin) is involved in LGMD2D, mapped on 17q21 (1– 7). The continuing progress in the id ...

Congenital muscular dystrophies (CMDs) are a clinically and genetically heterogenous group of muscle disorders, with onset in early infancy, and autosomal recessive inheritance (1– 3). Several forms have been identified: classical or occidental CMD with normal or subnormal intel ...

Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked muscular disease first described in the early 1960s in a family from Virginia (1) The disease is characterized by the triad of early contractures of the elbows, Achilles tendons, and postcervical muscles; slowly progressing muscle ...

The large majority of female carriers (heterozygotes) of Duchenne or Becker muscular dystrophies (DMD/BMD) show no overt clinical symptoms. Although most carriers have been reported to have heart abnormalities by imaging technologies (echocardiography), the majority of female ...

Several enzymes originating in muscle show increased activity in the serum of patients affected with different forms of muscular dystrophy (MD). These enzymes include creatine kinase (CK), aldolase, transaminase, and pyruvate kinase (PK), among others (reviewed in ref. 1). In the premol ...

Muscle biopsies from patients with a muscular dystrophy (MD) often arrive at the histopathology laboratory accompanied by information indicating a definite and accurate clinical diagnosis, but, just as frequently, they do not. It is therefore inadvisable to omit conventional hist ...