AB055. HADHB mutations in a child with suspected metabolic myopathy
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چکیده
منابع مشابه
Aborted Sudden Cardiac Death and a Mother with Suspected Metabolic Myopathy
Aborted sudden cardiac death (SCD) has not been reported as initial manifestation of cardiac involvement in metabolic myopathy (MM). A 20-year-old female with a previous history of three syncopes, hyperhidrosis, and recurrent tick bites experienced aborted SCD. Her mother presented with MM, and a history of pituitary adenoma, nephroptosis, arterial hypertension, depression, migraine, goiter, pa...
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The forearm ischemic exercise test has been widely employed to evaluate patients with suspected metabolic disorders of muscle function, although the procedure for carrying out the above test and the interpretation of subsequent data has varied [I]. In this paper we describe the analysis of plasma lactate levels following ischemic forearm exercise in 100 patients with exertional muscle pain and/...
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Myopathies are a heterogeneous group of disorders that can be challenging to diagnose. This review provides a diagnostic approach based predominantly on the clinical history and neurologic examination. Laboratory testing that can be used to confirm the suspected diagnosis based on this pattern recognition approach is also discussed. Careful consideration of the distribution of muscle weakness a...
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Malignant hyperthermia (MH) is a pharmacogenetic myopathy triggered by a variety of anaesthetic agents and muscle relaxants. In humans, susceptibility to MH is inherited as an autosomal dominant trait, and susceptible patients do not show a clinically relevant myopathy unless having suffered from a MH crisis. Homozygosity for the MHS trait is thought to be an uncommon finding, and so far only a...
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Myopathies are a heterogeneous group of disorders that affect the muscle channel, structure, or metabolism. This chapter will provide a diagnostic approach to a patient with suspected muscle disease based upon clinical history and examination. It will also provide a phenotypical approach to diagnosis based on the predominant pattern of weakness. Finally, laboratory testing that can be performed...
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ژورنال
عنوان ژورنال: Annals of Translational Medicine
سال: 2017
ISSN: 2305-5839,2305-5847
DOI: 10.21037/atm.2017.s055