Introduction In January 2012, a program was set up to rapidly screen patients with undiagnosed muscle disorders who were referred to a neuromuscular specialist in an adult hospital. A nurse was trained to do the DBS procedure as part of a series of required laboratory tests. All individuals referred to a neuromuscular specialist, either within the context of a neuromuscular clinic or an EMG lab...

Duchenne muscular dystrophy (DMD) is a fatal and incurable muscle degenerative disorder. We identify a function of the protease urokinase plasminogen activator (uPA) in mdx mice, a mouse model of DMD. The expression of uPA is induced in mdx dystrophic muscle, and the genetic loss of uPA in mdx mice exacerbated muscle dystrophy and reduced muscular function. Bone marrow (BM) transplantation expe...

Muscular dystrophy is one of the rare diseases that cause progressive weakness and degeneration of skeletal muscles used during voluntary movement. There are many different types of muscular dystrophy based on the age of onset, severity and pattern of inheritance, of which duchenne and becker muscular dystrophies being more prevalent. The absence or abnormality of dystrophin, a protein which fo...

OBJECTIVE To report a novel de novo vitelliform macular dystrophy (VMD2) mutation in a patient with Best macular dystrophy. METHODS Best-corrected visual acuity, dilated fundus examination, and electro-oculography were performed in a patient with Best macular dystrophy and his parents. Both the patient and his parents also had blood samples drawn, and their DNA was analyzed by direct genomic ...

Rimmed vacuoles in myofibers are thought to be due to the accumulation of autophagic vacuoles, and can be characteristic in certain myopathies with protein inclusions in myofibers. In this study, we performed a detailed clinical, molecular, and pathological characterization of Becker muscular dystrophy patients who have rimmed vacuoles in muscles. Among 65 Becker muscular dystrophy patients, we...

We have performed genetic linkage analysis on a four generation British family with cone-rod dystrophy. Significant linkage to the disease gene was obtained with eight marker loci situated on chromosome 17p12-p13. A maximum two-point lod score of 5.93 with no recombination was obtained with marker locus D17S1844. Critical recombinants identified with flanking marker loci placed the disease gene...

PURPOSE To describe a case of keratoconus and Fuchs' corneal endothelial dystrophy in the left eye with no corneal disease in the right eye. METHODS A 64-year-old woman presented with visual impairment in her left eye; computer-assisted topographic analysis and specular microscopy were performed in both eyes and left cornea was histopathologically examined. RESULTS Keratoconus was diagnosed...

X-linked dilated cardiomyopathy (XLDCM) is a distinct phenotype of dystrophinopathy characterized by preferential cardiac involvement without any overt skeletal myopathy. XLDCM is caused by mutations of the Duchenne muscular dystrophy (DMD) gene and results in lethal heart failure in individuals between 10 and 20 years. Patients with Becker muscular dystrophy, an allelic disorder, have a milder...

a:To repcst the association of macular dystrophy with matemslly inherited diabetes mellitus, deafness and " pigmentary due to a mutation of mitochondrial DNA (tRNA M&~&we examined 8 diabetic probands with this mutation to precise the characteris& of the tetinopathy associated with this mutation. R&D: These probands belonged to 6 different families; six of them had deafness. The 8 patients had a...

a:To repcst the association of macular dystrophy with matemslly inherited diabetes mellitus, deafness and " pigmentary due to a mutation of mitochondrial DNA (tRNA M&~&we examined 8 diabetic probands with this mutation to precise the characteris& of the tetinopathy associated with this mutation. R&D: These probands belonged to 6 different families; six of them had deafness. The 8 patients had a...