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OBJECTIVE To determine whether treatment with creatine can improve exercise intolerance in myophosphorylase deficiency (McArdle disease). DESIGN Double-blind, placebo-controlled crossover study with oral creatine monohydrate supplementation. PATIENTS Nine patients with biochemically and genetically proven McArdle disease were treated. INTERVENTION(More)
OBJECTIVE Mutation analysis of the acetylcholine receptor (AChR) epsilon subunit gene in patients with sporadic or autosomal recessive congenital myasthenic syndromes (CMS). BACKGROUND The nicotinic AChR of skeletal muscle is a neurotransmitter-gated ion channel that mediates synaptic transmission at the vertebrate neuromuscular junction. Mutations in its(More)
PURPOSE In tins retrospective study, positive results and side effects of long-term steroid treatment for Duchenne muscular dystrophy were analyzed. Results of an average follow-up period of 65 months (range, 49-79 mo) are described. METHODS Nineteen male patients receiving steroids (0.9 mg/kg deflazacort) were compared with the natural history of(More)
OBJECTIVE To determine the cause of sporadic rippling muscle disease (RMD) in a 24-year-old patient. BACKGROUND RMD is a rare myopathy characterized by percussion-induced rapid muscle contractions (PIRC), muscle mounding, and rippling waves. We have recently found that autosomal dominant RMD is caused by mutations in the caveolin-3 gene (CAV3) on(More)
Myoadenylate deaminase deficiency is the most common metabolic disorder of skeletal muscle in the Caucasian population, affecting approximately 2% of all individuals. Although most deficient subjects are asymptomatic, some suffer from exercise-induced myalgia suggesting a causal relationship between a lack of enzyme activity and muscle function. In(More)
BACKGROUND Mutations in various genes of the neuromuscular junction may cause congenital myasthenic syndromes (CMS). Most mutations identified to date affect the epsilon-subunit gene of the acetylcholine receptor (AChR), leading to end-plate AChR deficiency. Recently, three different mutations in the RAPSN gene have been identified in four CMS patients with(More)
OBJECTIVE To characterize the phenotype of hereditary rippling muscle disease (RMD) and to report the results of genetic linkage studies. BACKGROUND RMD is a rare autosomal-dominant inherited muscle disorder. Individuals complain of muscle stiffness, exercise-induced muscle pain, and cramp-like sensations. The characteristic feature of RMD is increased(More)
Inherited deficiency of myophosphorylase leads to glycogen storage disease type V (McArdle's disease). We performed mutation analysis in 9 patients of eight unrelated families from Germany with typical clinical presentation of myophosphorylase deficiency. Beside previously described mutations we identified four novel mutations in the myophosphorylase gene.(More)
Thus far, only very few cases with neuronal maldevelopment in the peripheral nervous system have been reported (Table 1). The present sporadic case manifested itself with peripheral sensorimotor polyneuropathy in early infancy. Clinical findings included pareses and hypaesthesia of distal extremities and severely reduced nerve conduction velocities. During(More)