Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance
نویسندگان
چکیده
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.
منابع مشابه
Atypical McArdle’s disease with asymmetric weakness and Atrophy
McArdle’s disease is an autosomal recessive disorder of glycogen metabolism, which occurs due to deficiency of myophosphorylase, an enzyme required for conversion of glycogen to glucose-1-phosphate in the muscle [1]. It is also known as Glycogen Storage Disease Type V or Glycogenosis Type V. This syndrome typically presents in the first two decades of life with exercise intolerance, muscle pain...
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McArdle disease is a rare disorder of skeletal muscle carbohydrate metabolism, with an estimated prevalence between 1: 100,0001:167,000 [1]. Affected individuals have mutations in both alleles of the PYGM gene, which encodes myophosphorylase, the skeletal muscle isoform of glycogen phosphorylase. McArdle disease is equally represented in both sexes and is inherited in an autosomal recessive man...
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McArdle disease (glycogenosis type V), the most common muscle glycogenosis, is a recessive disorder caused by mutations in PYGM, the gene encoding myophosphorylase. Patients with McArdle disease typically experience exercise intolerance manifested as acute crises of early fatigue and contractures, sometimes with rhabdomyolysis and myoblobinuria, triggered by static muscle contractions or dynami...
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BACKGROUND Pure exercise intolerance associated with exclusive affection of skeletal muscle is a very rare phenotype of patients with mitochondrial myopathy. Moreover, the exercise intolerance in these rare patients is yet not well explored, as most of known cases have not been assessed by objective testing, but only by interview. We report a patient with a mitochondrial DNA (mtDNA) mutation th...
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McArdle disease typically presents in childhood or young adults with myalgia, exercise intolerance, cramps and myoglobinuria. Deficiency of myophosphorylase enzyme results in inability to degrade glycogen stores, causing glycogen accumulation in muscle tissue and energy deficit. Evolution with rhabdomiolysis may occur and can be complicated with acute kidney injury but rarely, in about 11% of c...
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