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New mutations and genotype-phenotype correlation in late-onset Pompe patients.

Acta neurologica Belgica - 1 Mar 2017

Bekircan-Kurt Can Ebru, Güneş Hafize Nalan, Yildiz F Gokcem, Saka Esen, Tan Ersin, Erdem-Özdamar Sevim

Abstract excerpt

Pompe disease is a glycogen storage disease caused by acid alfa-glucosidase deficiency. Here, we report clinical properties, genetic features of our late-onset Pompe patients. Seven patients were followed during the last 10 years in our institute. The clinical and laboratory findings were reviewed. Neuropsychological evaluation was performed in four patients. Myotonic discharges of paraspinal muscles and...

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PMID: 28032299
DOI: 10.1007/s13760-016-0738-7

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