Creatine Therapy in Myophosphorylase Deficiency (McArdle Disease)
نویسندگان
چکیده
منابع مشابه
A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.
McArdle disease is a metabolic myopathy due to molecular defects in the myophosphorylase gene (PYGM), usually diagnosed in muscle biopsy. The aims of this study were to characterize genetically a large series of patients and to establish a protocol of molecular diagnosis on blood samples. We studied 55 Spanish unrelated patients with McArdle disease. Screening for the three more frequent mutati...
متن کاملA novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease.
OBJECTIVE To investigate the degree of genetic heterogeneity of myophosphorylase deficiency (McArdle disease) in Spain through molecular studies of 10 new patients. DESIGN The coding sequence of the entire myophosphorylase gene was sequenced in DNA extracted from muscle and blood. Restriction fragment length polymorphism analysis of polymerase chain reaction fragments was used to confirm and ...
متن کاملMyophosphorylase deficiency (McArdle's disease) in two interrelated families.
The clinical and laboratory findings are presented of three patients (two affected sisters and their male cousin) with myophosphorylase deficiency in two interrelated families. Nine unaffected relatives were also investigated. Although the three patients demonstrated the characteristic features of the disease, their unaffected relatives showed no clear evidence of a heterozygous state. The gene...
متن کاملSplice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease.
Over 100 mutations in the myophosphorylase gene, which cause McArdle disease, are known. All these mutations have resulted in a complete block of muscle glycogenolysis, and accordingly, no genotype-phenotype correlation has been identified in this condition. We evaluated physiologic and genetic features of two patients with a variant form of McArdle disease, associated with unusually high exerc...
متن کاملNormal pregnancy and successful delivery in myophosphorylase deficiency (McArdle's disease).
The progress in pregnancy of a female with myophosphorylase deficiency (McArdle's disease) is described. In spite of the increased muscular effort expended, both pregnancy and labour were normal and the muscle symptoms unchanged, suggesting that compensatory mechanisms might have operated. These possible mechanisms are discussed. Women suffering from the myopathy need not expect any deteriorati...
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ژورنال
عنوان ژورنال: Archives of Neurology
سال: 2000
ISSN: 0003-9942
DOI: 10.1001/archneur.57.7.956