提问
提问
我要登录
|免费注册
丁香实验推荐阅读
Application of Molecular Methodologies in Muscular Dystrophies

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 ...

丁香实验推荐阅读
Deletion and Duplication Analysis in Males Affected with Duchenne or Becker Muscular Dystrophy

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 ...

丁香实验推荐阅读
Molecular Analysis of Facioscapulohumeral Muscular Dystrophy (FSHD1)

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 ...

丁香实验推荐阅读
Molecular Investigation of LGMD2B-Haplotype Analysis and Mutation Screening

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 ...

丁香实验推荐阅读
Molecular Diagnosis of Calpainopathies: Methods Used for Detection of Mutations in CAPN3 Gene Implicated in Limb-Girdle Muscular Dystrophy Type 2A

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 ...

丁香实验推荐阅读
Mutation Analysis in -Sarcoglycan (LGMD2F)

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 ...

丁香实验推荐阅读
Mutation Detection in - and -Sarcoglycan (LGMD2E and LGMD2C)

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 ...

丁香实验推荐阅读
-Sarcoglycan Mutations

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 ...

丁香实验推荐阅读
Analysis of LAMA2 Gene in Merosin- Deficient Congenital Dystrophy

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 ...

丁香实验推荐阅读
Mutation Analysis of X-Linked Emery-Dreifuss Muscular Dystrophy Gene

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 ...

丁香实验推荐阅读
Molecular Diagnosis and Genetic Counseling of the Manifesting Carrier of Duchenne Muscular Dystrophy

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 ...

丁香实验推荐阅读
Serum Creatine Kinase in Progressive Muscular Dystrophies

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 ...

丁香实验推荐阅读
Histopathological Diagnosis of Muscular Dystrophies

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 ...

丁香实验推荐阅读
Clinical Examination as a Tool for Diagnosis: Historical Perspective

The purpose of diagnosis, since the days of classical Greece, when the concept was introduced, has been to provide a basis for prognosis and for the prescription of a regimen of management. Prognosis, i.e., explaining to the patient and family what the future holds, remains the central purpose of medi ...

丁香实验推荐阅读
Fluorescence In Situ Hybridization Analysis for Carrier Detection in Duchenne/Becker Muscular Dystrophy

A variety of molecular techniques can be employed to determine carrier status in Duchenne/Becker muscular dystrophy (DMD/BMD). Some of these are described in other chapters of this book, and include linkage analysis using restriction fragment length polymorphism or CA repeats, singl ...

丁香实验推荐阅读
Point Mutations in the -Synuclein Gene

Idiopathic Parkinson’s disease (PD) is an age-dependent, neurodegenerative disorder and is predominantly sporadic. Only 20–30% of patients have a positive family history for PD with a complex mode of inheritance. In a few extended families, the disease is inherited as an autosomal domina ...

丁香实验推荐阅读
Oxidative Stress Indices in Parkinson Disease: Biochemical Determination

Parkinson’s disease (PD) is associated with progressive degeneration of melanin-containing dopamine neuron cell bodies arising in the substantia nigra pars compacta (SNpc) and projecting terminals to the striatum. The disease is best characterized biochemically as a deficie ...

丁香实验推荐阅读
Functional Defect Conferred by the Parkinson Disease-Causing Synuclein

The association of missense mutations in the α-synuclein gene to heritable Parkinson’s diesease (PD) indicates that dysfunction of normal α-synuclein metabolism, or novel gain-of-functions by the mutant peptides, can elicit early-onset PD (1,2). The accumulation of α-synuclein in n ...

丁香实验推荐阅读
Molecular Biology of Dopamine-Induced Apoptosis

The causes for the highly selective loss of dopaminergic neurons in the substantia nigra pars compacta in Parkinson’s disease (PD) are still unknown. However, a major advance has been recently made with the introduction of the concept of apoptosis as the route leading this specific neuronal po ...

丁香实验推荐阅读
The Role of Nitric Oxide in Parkinson Disease

Neurodegenerative disorders are adult-onset disabling neurologic conditions such as Parkinson’s disease (PD) in which specific subsets of brain neurons are dying. Without exception, the frequency of these disorders is increasing dramatically as the proportion of elderly in our ...

提问
扫一扫
丁香实验小程序二维码
实验小助手
丁香实验公众号二维码
关注公众号
反馈
TOP
打开小程序