We report on two unrelated Brazilian families with members affected by two different forms of muscular dystrophy. In the first one, the 35year-old male proband has limb-girdle muscular dystrophy with proximal weakness, elevated creatine kinase and a myopathic muscle biopsy. All the proteins known to be associated with limb-girdle muscular dystrophy were normal. Two of his sisters also complaine...

Limb-girdle muscular dystrophy primarily affects the muscles of the hips and shoulders (the "limb-girdle" muscles), although it is a heterogeneous disorder that can present with varying symptoms. There is currently no cure. We sought to identify the genetic basis of limb-girdle muscular dystrophy type 1 in an American family of Northern European descent using exome sequencing. Exome sequencing ...

I am delighted to have this opportunity to mark Professor Lord Walton’s outstanding personal contribution to Muscular Dystrophy UK or, as the charity was known when founded in 1959, the Muscular Dystrophy Group of Great Britain and Northern Ireland. It is remarkable that John Walton has maintained such loyal and committed support for the charity over so many years. It is difficult if not imposs...

It has been established that the levels of certain enzymes are elevated in the serum of patients suffering from muscular dystrophy. Previous studies (Pearson, 1957; Dreyfus, Schapira, and Demos, 1958; Thompson and Vignos, 1959; Schapira, Dreyfus, Schapira, and Demos, 1960; Thomson, Leyburn, and Walton, 1960; Pearson, Chowdhury, Fowler, Jones, and Griffith, 1961) have indicated that a number of ...

Mice deficient in α-sarcoglycan (Sgca-null mice) develop progressive muscular dystrophy and serve as a model for human limb girdle muscular dystrophy type 2D. Sgca-null mice suffer a more severe myopathy than that of mdx mice, the model for Duchenne muscular dystrophy. This is the opposite of what is observed in humans and the reason for this is unknown. In an attempt to understand the cellular...

Pavlata L. , A. Pechová, J . I l lek: Muscular Dystrophy in Dairy Cows Following a Change in Housing Technology. Acta Vet. Brno 2001, 70: 269–275. The objective of the study was to monitor the state of health (in particular damage to muscular tissues) in dairy cows suffering from a marked selenium deficiency. The investigations were conducted in a herd of Bohemian Red Pied cattle at the time of...

In humans, mutations in the genes encoding components of the dystrophin-glycoprotein complex cause muscular dystrophy. Specifically, primary mutations in the genes encoding alpha-, beta-, gamma-, and delta-sarcoglycan have been identified in humans with limb-girdle muscular dystrophy. Mice lacking gamma-sarcoglycan develop progressive muscular dystrophy similar to human muscular dystrophy. With...

The Becker and Duchenne Muscular Dystrophy Test provides a high quality read-out of all exons of DMD gene. Our OS-SeqTM technology provides high coverage clinical grade sequencing and enables reliable diagnostics for patients with significantly lower costs and faster turnaround time (basic service TAT 21 days and Express service TAT 7-10 days). The Becker and Duchenne Muscular Dystrophy Test ha...

Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such boys. We report a case of preimplantation genetic diagnosis associated with Duchenne muscular dystrophy...

Duchenne muscular dystrophy (DMD) is a fatal, X-linked neuromuscular disease that affects 1 boy in 3500 to 5000 boys. The golden retriever muscular dystrophy dog is the best clinically relevant DMD animal model. Here, we used a high-thoughput miRNA sequencing screening for identification of candidate serum miRNA biomarkers in golden retriever muscular dystrophy dogs. We confirmed the dysregulat...