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A 61-year-old man in generally good health had a 2-year history of repetitive episodes of muscle cramps, weakness, numbness and muscle pain of the bilateral limbs after exerting himself. During each episode, his serum creatine kinase level became elevated then recovered only after sufficient
Two patients with exercise-induced myalgias and rhabdomyolysis with myoglobinuria were evaluated with muscle biopsy and comprehensive myopathy next generation sequencing (NGS) gene panels. Genetic analysis revealed homozygosity for two known pathogenic SGCA mutations (R284C in Patient 1 and V247M in
The sarcoglycanopathies are a heterogeneous group of autosomal recessive limb-girdle muscular dystrophies that cause varying degrees of progressive proximal muscle weakness.
We describe the case of a Caucasian girl who presented with exercise intolerance, myalgia, and dark urine. Onset of symptoms
A four-month-old female Dobermann presented with myalgia, dysphagia, progressive weakness and loss of body condition. Diagnostic evaluation at nine months of age revealed markedly elevated serum creatine kinase activity, electromyographic abnormalities and histological evidence of chronic-active