Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance
نویسندگان
چکیده
منابع مشابه
Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance
We present a 16-year-old girl with a unique clinical phenotype characterized by rapidly progressive exercise intolerance, transient exertional weakness, and progressive muscle cramps involving all limbs and bulbar muscles, following a first myoglobinuric episode at age 15 years, arising from homozygosity for a novel missense mutation (c.281G>C) in PYGM.
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The aim of this study was to evaluate the contribution of mitochondrial DNA (mtDNA) mutations in oxidative phosphorylation (OXPHOS) deficiency. The complete mitochondrial genomes of 41 families with OXPHOS deficiency were screened for mutations. Mitochondrial functional analysis was then performed in primary and cybrid cells containing candidate mutations identified during the screening. A nove...
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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 ...
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1. Explain the causes of exercise intolerance. 2. List the two most useful diagnostic tools for assessing exercise intolerance. 3. Describe how pulmonary dysfunctions, cardiac diseases, and muscular disorders affect exercise tolerance. 4. Delineate the nonpharmacologic treatment of choice for most cases of exercise intolerance. 5. Explain the role of behavioral modification within a family-base...
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A myopathy with severe exercise intolerance and myoglobinuria has been described in patients from northern Sweden, with associated deficiencies of succinate dehydrogenase and aconitase in skeletal muscle. We identified the gene for the iron-sulfur cluster scaffold protein ISCU as a candidate within a region of shared homozygosity among patients with this disease. We found a single mutation in I...
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ژورنال
عنوان ژورنال: Clinical Case Reports
سال: 2018
ISSN: 2050-0904
DOI: 10.1002/ccr3.1233