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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)
Hereditary rippling muscle disease (RMD) is an autosomal dominant human disorder characterized by mechanically triggered contractions of skeletal muscle. Genome-wide linkage analysis has identified an RMD locus on chromosome 3p25. We found missense mutations in positional candidate CAV3 (encoding caveolin 3; ref. 5) in all five families analyzed. Mutations(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)
Malignant hyperthermia (MH) is a rare autosomally dominantly hereditary and potentially life-threatening disease. The prevalence of the genetic MH predisposition is estimated as 1:10,000 to 1:20,000. In Germany no data on the regional distribution are available. Therefore, the purpose of this investigation is to summarise and present the epidemiological(More)
BACKGROUND Determination of sensitivity and specificity of the in vitro contracture test (IVCT) for malignant hyperthermia (MH) susceptibility using the European MH Group (EMHG) protocol has been performed in some laboratories but only on a small sample from the combined EMHG. Thus, the purpose of the present study was to determine combined EMHG sensitivity(More)
UNLABELLED During the last 30 years a great number of case reports presented severe anaesthetic complications with sudden cardiac arrest in patients with muscular dystrophies, mostly unsuspected at the time of the event. As succinylcholine was involved in the majority of the intractable incidents with lethal outcome the Food and Drug Administration (FDA) of(More)
BACKGROUND In a recent study, we showed that administration of low-dose creatine (Cr) (60 mg/kg daily) improved work capacity in patients with McArdle disease. OBJECTIVE To assess the efficacy of high-dose Cr therapy in McArdle disease. DESIGN Randomized, double-blind, placebo-controlled crossover study. PATIENTS Nineteen patients with McArdle(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 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)
In Duchenne muscular dystrophy (DMD), short stature is a feature of unknown cause. This cross-sectional study of 34 male patients (mean age 8.0 y, age range 1.2-13.7 y) was conducted to examine the relationship between auxological parameters, markers of growth and the extent of muscular weakness. Weight and length at birth (SDS +/- SD; 0.0 +/- 1.2; 0.2 +/-(More)