OBJECTIVE In this study, it was aimed to describe the clinical, histopathological and genetic features of 20 patients with gamma sarcoglycanopathy confirmed by muscle biopsies and genetic analysis. MATERIAL AND METHOD We retrospectively reviewed 20 patients from whom muscle biopsy specimens were obtained between 2007 and 2012. All patients were clinically diagnosed as muscular dystrophy and b...

BACKGROUND Mitochondrial diseases are caused by mutations in mitochondrial or nuclear genes, or both and most patients do not present with easily recognizable disorders. The characteristic morphologic change in muscle biopsy, ragged-red fibers (RRFs) provides an important clue to the diagnosis. MATERIALS AND METHODS Demographic data, presenting symptoms, neurological features, and investigati...

BACKGROUND Myalgia, defined as any pain perceived in muscle, is very common in the general population and a frequent cause for referral to neurologists, rheumatologists and internists in general. It is however only rarely due to primary muscle disease and often referred from ligaments, joints, bones, the peripheral and central nervous system. A muscle biopsy should only be performed if this is ...

BACKGROUND Progressive external ophthalmoplegia (PEO) is a mitochondrial myopathy of ocular muscles. Diagnostic investigation usually involves limb skeletal muscle biopsy and molecular genetic studies, although diagnostic yield tends to be low. The purpose of this study was to evaluate the diagnostic yield obtained by analysis of levator palpebrae (LP) muscle tissue. METHODS This is a clinico...

A muscle biopsy is currently requested to assess the diagnosis of an idiopathic inflammatory myopathy overlapping with a systemic disease. During the past few years, the classification of inflammatory myopathy subtypes has been revisited progressively on the basis of correlations between clinical phenotypes, autoantibodies and histological data. Several syndromic entities are now more clearly d...

Graham, J. A., and Scobie, W. G. (1970). Archives of Disease in Childhood, 45, 473. Muscle biopsy measurement of body water and intracellular electrolytes in children. Body water and electrolytes have been measured in normal infants and children using a muscle biopsy technique. Extracellular water, sodium, and chloride contents per kilogram dry weight are high in infancy but fall to adult value...

Sera from patients with heart disease were examined by single sandwich indirect immunofluorescence for the presence of antibodies to human heart muscle. Endocardial biopsy specimens were also examined by direct immunofluorescence for deposition of antibodies in vivo. No consistent or specific abnormality was found in the biopsy specimens or sera of patients with congestive cardiomyopathy. The p...

Graham, J. A., and Scobie, W. G. (1970). Archives of Disease in Childhood, 45, 473. Muscle biopsy measurement of body water and intracellular electrolytes in children. Body water and electrolytes have been measured in normal infants and children using a muscle biopsy technique. Extracellular water, sodium, and chloride contents per kilogram dry weight are high in infancy but fall to adult value...