Detection of c. −32T&gt;G (IVS1−13T&gt;G) mutation of Pompe disease by real-time PCR in dried blood spot specimen

Lobato, Joaquín Bobillo; Peral, Blas A. Sánchez; Parejo, Pilar Durán; Jiménez, Luís

doi:10.1016/j.cca.2012.12.015

Cited by 6 publications

(1 citation statement)

References 9 publications

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“…The common mutation in Caucasians, c.-32–13T>G, also known as the common IVS1 variant, originally linked to the adult-onset form of LOPD,55 but later described to be associated with a broad spectrum of Pompe disease,56–58 can be detected by real-time PCR in DBS specimens 59. This may be suitable for molecular diagnostic laboratories where a large number of samples must be processed 59…”

Section: Discussionmentioning

confidence: 99%

Selective screening of late-onset Pompe disease (LOPD) in patients with non-diagnostic muscle biopsies

2019

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AimsAs of 2016, there were five patients with Pompe in Slovenia (two infantile, one childhood and two adult onset) with a prevalence of 1:400 000; however, the prevalence of late-onset Pompe disease (LOPD) in some other countries means this ratio could be an underestimate. Since an LOPD muscle biopsy could be unspecific or even normal, the purpose of this study is to assess the prevalence of LOPD in patients with non-diagnostic muscle biopsies.MethodsSix hundred biopsies were recorded at the Neuromuscular Tissue Bank of the University of Ljubljana for the period 2004–2014. All adult patients with non-diagnostic muscle biopsies were invited to the National Slovenian Neuromuscular Centre for dried blood spot testing for LOPD.ResultsA total of 90 patients (56% of those invited) responded. No patient with LOPD was found. A total of 49 patients (54%) had fixed muscle weakness, 31 (34%) had mild symptoms and no weakness and 10 (11%) had asymptomatic hyperCKemia. Ventilatory insufficiency associated with proximal muscle weakness was found in two patients (2%). No patients exhibited vacuolar myopathy, globular accumulations of glycogen or regions of increased acid phosphatase activity within the sarcoplasm.ConclusionsThe study results do not support the hypothesis that LOPD is underestimated in Slovenian patients with non-diagnostic muscle biopsies; this could be consistent with the fact that LOPD is of low prevalence in Slovenia, as is the case in the populations of Finland, French-speaking Belgium, west Sweden and west Denmark.

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Section: Discussionmentioning

confidence: 99%