The Journal publishes articles on basic or clinical research relating to nephrology, arterial hypertension, dialysis and kidney transplants. It is governed by the peer review system and all original papers are subject to internal assessment and external reviews. The journal accepts submissions of articles in English and in Spanish languages. The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two receding years. CiteScore measures average citations received per document published. Read more.
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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. About cases of the myopathic form have been reported in the literature, but this number may under-estimate the disease prevalence. The disease is more common in men, probably reflecting an ascertainment bias related to exposure to prolonged exercise.
The clinical manifestations are characterized by recurrent attacks of rhabdomyolysis, muscle pain, and weakness triggered usually by prolonged physical exercise and sometimes exacerbated by extremes in temperature; episodes may also be provoked or exacerbated by prolonged fasting, such as may occur with intercurrent viral illness.
Patients are asymptomatic between episodes of rhabdomyolysis. SerLeu mutation, which impairs enzyme stability. The differential diagnosis should include McArdle disease, Duchenne muscular dystrophy, cytochrome c oxidase deficiency see these terms , complex II deficiency, complex III deficiency and rhabdomyolysis due to excessive exercise, infections, autoimmune reactions or drug-related neuroleptic syndrome among others. Transmission is autosomal recessive.
If the disease-causing mutations are identified in an affected individual, early diagnosis by molecular genetic testing can be offered to at-risk relatives to reduce morbidity and mortality. L-carnitine administration and anaplerotic diet therapy with triheptanoin have been suggested for treatment of the disease; however benefits have not been proven.
Other search option s Alphabetical list. Suggest an update. Summary and related texts. Related genes. Clinical signs. Check this box if you wish to receive a copy of your message. Summary Epidemiology About cases of the myopathic form have been reported in the literature, but this number may under-estimate the disease prevalence.
Differential diagnosis The differential diagnosis should include McArdle disease, Duchenne muscular dystrophy, cytochrome c oxidase deficiency see these terms , complex II deficiency, complex III deficiency and rhabdomyolysis due to excessive exercise, infections, autoimmune reactions or drug-related neuroleptic syndrome among others. Genetic counseling Transmission is autosomal recessive. Detailed information Article for general public Svenska Professionals Clinical genetics review English Additional information Further information on this disease Classification s 3 Gene s 1 Clinical signs and symptoms Other website s 3.
Health care resources for this disease Expert centres Diagnostic tests Patient organisations 77 Orphan designation s and orphan drug s 1.
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