Myophosphorylase deficiency

01/01/2007 - "Lower-dose CrM supplementation in patients with McArdle's disease (myophosphorylase deficiency) improved exercise capacity, yet higher doses actually showed some indication of worsened function. "
11/01/2002 - "Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families."
02/01/2000 - "To investigate the degree of genetic heterogeneity of myophosphorylase deficiency (McArdle disease) in Spain through molecular studies of 10 new patients. "
07/01/2012 - "McArdle disease is caused by a myophosphorylase deficiency consequent to defects in the PYGM gene. "
08/01/2011 - "Clinical and laboratory features of patients with myophosphorylase deficiency (McArdle disease)."

02/01/1987 - "Myophosphorylase deficiency: the course of an unusual congenital myopathy."
10/01/1983 - "Atypical presentations of myophosphorylase deficiency have included progressive weakness of late onset and fatal infantile myopathy. "
09/01/2013 - "McArdle's disease (glycogen storage disease type V) is a rare autosomal recessive metabolic myopathy due to myophosphorylase deficiency. "
04/01/2013 - "McArdle disease (MD) is a metabolic myopathy due to myophosphorylase deficiency. "
01/01/1985 - "After the discovery in 1959 of myophosphorylase deficiency, at least 15 myopathies due to deficiency of enzymes involved in energy substrate utilization have been described. "

12/11/1998 - "His mother had exercise intolerance without myoglobinuria and no histochemical evidence of myophosphorylase deficiency. "
09/01/1994 - "Myophosphorylase deficiency: an unusually severe form with myoglobinuria."
05/01/1978 - "Of eight other patients thought to have idiopathic recurrent myoglobinuria, three were found to have myophosphorylase deficiency, whereas five did not have deficiency of either enzyme. "
04/01/2003 - "Myophosphorylase deficiency is characterized by exercise intolerance, muscle cramps, and recurrent myoglobinuria. "
11/01/1982 - "Exercise intolerance, muscle cramps, and myoglobinuria characterize McArdle's syndrome or myophosphorylase deficiency. "

04/01/2003 - "Myophosphorylase deficiency is characterized by exercise intolerance, muscle cramps, and recurrent myoglobinuria. "
11/01/1982 - "Exercise intolerance, muscle cramps, and myoglobinuria characterize McArdle's syndrome or myophosphorylase deficiency. "
08/01/1980 - "Myophosphorylase deficiency (McArdle's syndrome) is an uncommon condition characterized by exercise intolerance, muscle cramps and myoglobinuria. "
06/01/2006 - "Susceptibility to exertional cramps and rhabdomyolysis in myophosphorylase deficiency (McArdle's disease [MD]) may lead patients to shun exercise. "
07/22/1993 - "Myophosphorylase deficiency (McArdle's disease) is one of the most common causes of exercise intolerance, muscle cramps, and recurrent myoglobinuria. "

09/01/2003 - "McArdle disease (glycogenosis type V or myophosphorylase deficiency)."
03/01/2002 - "Myophosphorylase deficiency (glycogenosis type V; McArdle disease)."
01/01/2000 - "The clinical manifestations may resemble myophosphorylase deficiency (McArdle's disease: glycogenosis Type V) and muscle phosphofructokinase deficiency (Tarui's disease: glycogenosis Type VII). "
02/01/1992 - "We studied plasma ammonia and exercise tolerance in six patients with McArdle's disease (myophosphorylase deficiency, type V glycogenosis) during incremental cycle ergometry. "
12/04/2004 - "A 35-year-old patient had persistent, refractory symptomatic pulmonary sarcoidosis, complicated by a rare congenital muscular disease: McArdle's disease (a glycogen storage disease caused by myophosphorylase deficiency). "