본문 바로가기
KERD
논문KCI 등재

성인형 당원축적근육병 1예

A Case of Adult Onset Glycogen Storage Myopathy

2

조회

0

다운로드

0

인용

0

참고문헌

키워드

주제분류신경과학

초록

Primary metabolic myopathy as a type of congenital myopathies was first described by McArdle in 1951. Glycogenstorage disease is a disease caused by genetic mutations involved in glycogen synthesis, glycogenolysis or glycolysis. Several types of glycogen storage disease are known to cause metabolic myopathies. We report a case of adult onsetmetabolic myopathy with glycogen storage. (Korean J Clin Neurophysiol 2014;16:81-85)

Abstract

Primary metabolic myopathy as a type of congenital myopathies was first described by McArdle in 1951. Glycogenstorage disease is a disease caused by genetic mutations involved in glycogen synthesis, glycogenolysis or glycolysis. Several types of glycogen storage disease are known to cause metabolic myopathies. We report a case of adult onsetmetabolic myopathy with glycogen storage. (Korean J Clin Neurophysiol 2014;16:81-85)

참고문헌 (10)

  1. Burr ML, "Metabolic myopathies: a guide and update for clinicians", Current opinion in rheumatology, 20, pp.639~647 (2008)
  2. Haller RG, "Spontaneous “second wind” and glucose-induced second “second wind” in McArdle disease: oxidative mechanisms", Arch Neurol, 59, pp.1395~1402 (2002)
  3. Haller RG, "No spontaneous second wind in muscle phosphofructokinase deficiency", Neurology, 62, pp.82~86 (2004)
  4. Toscano A, "Tarui disease and distal glycogenoses:clinical and genetic update", Acta myologica: myopathies and cardiomyopathies: official journal of the Mediterranean Society of Myology, 26, pp.105~107 (2007)
  5. Noel N, "Two new phosphoglycerate kinase mutations associated with chronic haemolytic anaemia and neurological dysfunction in two patients from Spain", British journal of haematology, 132, pp.523~529 (2006)
  6. Berardo A, "A diagnostic algorithm for metabolic myopathies", Current neurology and neuroscience reports, 10, pp.118~126 (2010)
  7. Toda G, "Glycogen storage disease associated with left ventricular aneurysm in an elderly patient", Jpn Circ J, 65, pp.462~464 (2001)
  8. Andersen ST, "Effect of oral sucrose shortly before exercise on work capacity in McArdle disease", Arch Neurol-Chicago, 65, pp.786~789 (2008)
  9. Martinuzzi A, "Randomized, placebo-controlled, doubleblind pilot trial of ramipril in McArdle's disease", Muscle Nerve, 37, pp.350~357 (2008)
  10. Kishnani PS, "Recombinant human acid alpha-glucosidase - Major clinical benefits in infantile-onset Pompe disease", Neurology, 68, pp.99~109 (2007)

관련 논문AI추천

이 간행물의 다른 논문 (10건)