Differential diagnosis of limb-girdle muscular dystrophy and spinal muscular atrophy

Limb-girdle Muscular Dystrophy

Limb-girdle Muscular Dystrophy

Limb-girdle Muscular Dystrophy

Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques.

The Western blot technique is currently the standard detection method for suspected limb girdle muscular dystrophy (LGMD) 2A (calpainopathy). This is the first report in the English literature of the successful application of immunohistochemical techniques to support a diagnosis of LGMD 2A. This approach is straightforward and appears to be reasonably specific. We propose that immunohistochemic...

molecular diagnosis of limb girdle muscular dystrophies

limb girdle muscular dystrophies (lgmds) are group of neuromuscular disorders which are characterized by progressive muscle weakness and they mostly affect the pelvic and shoulder girdle muscles. this disease can be inherited as autosomal dominant (lgmd1) and autosomal recessive (lgmd2). so far seven autosomal dominant and 20 autosomal recessive forms of this disease have been recognized reflec...