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Nabavi Nouri M, Lamhonwah AM, Tein I. Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance. Clin Case Rep. 2018;6(3):499-501doi: 10.1002/ccr3.1233.
Nabavi Nouri, M., Lamhonwah, A. M., & Tein, I. (2018). Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance. Clinical case reports, 6(3), 499-501. https://doi.org/10.1002/ccr3.1233
Nabavi Nouri, Maryam, et al. "Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance." Clinical case reports vol. 6,3 (2018): 499-501. doi: https://doi.org/10.1002/ccr3.1233
Nabavi Nouri M, Lamhonwah AM, Tein I. Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance. Clin Case Rep. 2018 Jan 28;6(3):499-501. doi: 10.1002/ccr3.1233. eCollection 2018 Mar. PMID: 29531726; PMCID: PMC5838269.
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Clin Case Rep. 2018 Jan 28;6(3):499-501. doi: 10.1002/ccr3.1233. eCollection 2018 Mar.

Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance.

Clinical case reports

Maryam Nabavi Nouri, Anne-Marie Lamhonwah, Ingrid Tein

Affiliations

  1. Division of Neurology Department of Pediatrics The Hospital for Sick Children Toronto ON Canada.
  2. Genetics and Genome Biology Program The Research Institute The Hospital for Sick Children Toronto ON Canada.
  3. Department of Laboratory Medicine and Pathobiology University of Toronto Toronto ON Canada.

PMID: 29531726 PMCID: PMC5838269 DOI: 10.1002/ccr3.1233

Abstract

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

Keywords: McArdle's disease; myoglobinuria; myophosphorylase deficiency; novel missense mutation c.281G>C (p.Arg94Pro); progressive exercise intolerance

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