نتایج جستجو برای: muscular dystrophy
تعداد نتایج: 52759 فیلتر نتایج به سال:
Several abnormalities in the central nervous system were shown in patients with progressive muscular dystrophy using computerised tomography (CT) scans, electroencephalograms, psychometry, and ophthalmological methods. In congenital muscular dystrophy, the most characteristic finding in the CT scan was a low density area in the white matter, seen in 14 (56%) out of 25 cases. In Duchenne dystrop...
Duchenne muscular dystrophy is caused by mutations in the DMD gene that disrupt the open reading frame and prevent the full translation of its protein product, dystrophin. Restoration of the open reading frame and dystrophin production can be achieved by exon skipping using antisense oligonucleotides targeted to splicing elements. This approach aims to transform the Duchenne muscular dystrophy ...
Dystrophic is the adjective pertaining to, or characterized by dystrophy. It applies to any degenerative disorder resulting from inadequate nutrition, or more specifi cally to muscular dystrophy. Amyotrophy is another closely related word, meaning literally lack of muscle growth or nourishment, but often used imprecisely or loosely to mean acquired muscle wasting, e.g. neuralgic amyotrophy, dia...
Background and Objective: Becker Muscular Dystrophy (BMD) is a subtype of dystrophinopathies and designated as “mild form of dystrophinopathy”. The frequency rate of the disease is 1:18000 to 1:30000 in different populations and the symptoms are presented at about 8-9 years of age. The diagnostic panel composed of Serum Ceratin Kinase (SCK) measurement, Electromyography (EMG), and as a major...
Sixteen participants from Austria, France, Germany, Italy, the Netherlands and the UK met to discuss the cardiac implications of the diagnosis of muscular dystrophy and myotonic dystrophy. The group included both myologists and cardiologists from nine different European centers. The aims of the workshop were to agree and report minimum recommendations for the investigation and treatment of card...
BACKGROUND Limb-girdle muscular dystrophy type 2I is caused by mutations in the fukutin-related protein gene (FKRP). FKRP encodes a putative glycosyltransferase protein that is involved in alpha-dystroglycan glycosylation. OBJECTIVES To identify patients with limb-girdle muscular dystrophy type 2I and to derive genotype-phenotype correlations. DESIGN Two hundred fourteen patients who showed...
The involvement of the sarcoglycan complex in the pathogenesis of muscular dystrophy is becoming increasingly clear. Sarcoglycan gene mutations lead to four forms of autosomal recessive limb-girdle muscular dystrophy. Recent progress has been made with the identification of novel mutations and their correlations with disease. Through this research, a better understanding the molecular pathogene...
BACKGROUND Persistently raised transaminase levels often prompt the clinician to investigate for liver pathology. Previously, some of our patients with Duchenne's muscular dystrophy have had investigations to look for liver disorders when the alanine transaminases (ALTs) were found incidentally to be high. AIM The objective of the study was to ascertain the levels of the transaminases in pati...
et. al, 1968/1969) and give an estimate of 0-23 for the recombination fraction with 9500 confidence limits of 0-13 to 0 43. These results confirm the linkage relationships between deutan colour blindness and Becker muscular dystrophy but since the loci for Duchenne muscular dystrophy and colour blindness are not within measurable distance of each other these results indicate that the Becker and...
1. AMP, ADP, ATP, IMP, GDP, GTP and adenylosuccinate have been measured by high pressure liquid chromatography in three types of animal muscular dystrophy and in a human patient with Duchenne muscular dystrophy. 2. Abnormalities in nucleotide content varied from one dystrophy to another. 3. In each case, however, the ratio [total adenine nucleotide + IMP]/[total guanine nucleotides] was lower i...
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