dict.md logo
Choose languages of interest
SELECT >>
English
German
Advertisement:
Definition
 
enEnglish
Muscular Dystrophy, Duchenne definition: An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)
Duchenne Muscular Dystrophy definition: An X-linked inherited disorder caused by mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.
pseudohypertrophic progressive muscular dystrophy definition: Pelvic muscle weakness and atrophy associated with pseudohypertrophy of the calves. Two basic types are recognized: Duchenne muscular dystrophy (Type I) Synonym: childhood pseudohypertrophic muscular dystrophy with the onset of symptoms between the ages of 3 and 5 years, the patients becoming bedridden by age of 12 and death by age 20 to 25 years. Becker muscular dystrophy (Type II) Synonyms: adult pseudohypertrophic muscular dystrophy mild or benign X-linked recessive muscular dystrophy with onset of symptoms between the ages of 20 and 30 years and relatively normal life expectancy in most cases. Atrophic changes begin in the muscles of the pectoral girdle and trunk and extend to the extremities. As their size increases, the muscles become firm and resilient, but their strength diminishes and, eventually, atrophy ensues. Inability to rise to an upright position without turning to the side, waddling gait, and progressive weakness are the characteristic features. Pseudohypertrophy of the calf muscles is due to fibrous tissue and fat infiltration. Involvement of the heart consists of usually terminal cardiomyopathy. Fasciculation and atrophy of the tongue with dysphagia, dysarthria, and thickened nasal speech are usually associated. Usually mild and static mental retardation occurs in about 30% DMD patients most children having normal, even superior intelligence.
Duchenne muscular dystrophy definition: X-linked recessive muscle disease caused by an inability to synthesize dystrophin, which is involved with maintaining the integrity of the sarcolemma; muscle fibers undergo a process that features degeneration and regeneration; clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy and an increased incidence of impaired mentation; Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course.
Enzyme-Linked Immunosorbent Assay definition: An immunoassay utilizing an antibody labeled with an enzyme marker such as horseradish peroxidase. While either the enzyme or the antibody is bound to an immunosorbent substrate, they both retain their biologic activity; the change in enzyme activity as a result of the enzyme-antibody-antigen reaction is proportional to the concentration of the antigen and can be measured spectrophotometrically or with the naked eye. Many variations of the method have been developed.
enzyme linked immunosorbent assay definition: immunoassay utilizing an antibody labeled with an enzyme marker such as horseradish peroxidase; while either the enzyme or the antibody is bound to an immunosorbent substrate, they both retain their biologic activity; the change in enzyme activity as a result of the enzyme-antibody-antigen reaction is proportional to the concentration of the antigen and can be measured spectrophotometrically or with the naked eye; many variations of the method have been developed.
ELISA definition: A highly sensitive technique for detecting and measuring antigens or antibodies in a solution; the solution is run over a surface to which immobilized antibodies specific to the substance have been attached, and if the substance is present, it will bind to the antibody layer, and its presence is verified and visualized with an application of antibodies that have been tagged in some way. (BioTech Life Science Dictionary)
ELISA definition: ELISA
Benzaldehyde Dehydrogenase (NADP+) definition: An NADP+ dependent enzyme that catalyzes the oxidation of benzaldehyde to BENZOIC ACID. It also plays a role in the degradation of TOLUENE and XYLENE.
Adrenoleukodystrophy definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).
11 further definitions >>
Publications
 

Cross-linked informofers.

V V Prosvirnin et al.

Nucleic Acids Research , 24 Nov 1979

Distinct yet linked: chaperone networks in the eukaryotic cytosol

Sabine Rospert et al.

Genome Biology , 2006

A convenient sequencing method for 5' protein-linked RNAs.

A Nomoto et al.

Nucleic Acids Research , 10 Nov 1979

UniPep - a database for human N -linked glycosites: a resource for biomarker discovery

Hui Zhang et al.

Genome Biology , 2006

A novel locus for X-linked congenital cataract on Xq24

Jamie E. Craig et al.

Molecular Vision , 18 Apr 2008

Solution structure of oligonucleotides covalently linked to a psoralen derivative.

O Bornet et al.

Nucleic Acids Research , 11 Mar 1995

Alpha thalassaemia-mental retardation, X linked

Richard Gibbons

Orphanet Journal of Rare Diseases , 04 May 2006

BTKbase, mutation database for X-linked agammaglobulinemia (XLA).

M Vihinen et al.

Nucleic Acids Research , 01 Jan 1996

BTKbase, mutation database for X-linked agammaglobulinemia (XLA).

M Vihinen et al.

Nucleic Acids Research , 01 Jan 1998

Prediction of "hot spots" of aggregation in disease-linked polypeptides

Natalia Sánchez de Groot et al.

BMC Structural Biology , 30 Sep 2005

3893 further publications >>