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Late-onset pompe disease in Iran: A clinical and genetic report.

Muscle & nerve - 1 Jun 2017

Nazari Ferdos, Sinaei Farnaz, Nilipour Yalda, Fatehi Farzad, Streubel Berthold, Ashrafi Mahmoud Reza, Aryani Omid, Nafissi Shahriar

Abstract excerpt

INTRODUCTION: Pompe disease is characterized by absence or deficiency of acid α-glucosidase, and several causative mutations are known. In this study we report clinical and laboratory data in Iranian patients with late-onset Pompe disease (LOPD), focusing on population-specific mutations. METHODS: Clinical and laboratory data of 14 patients from 10 families with the diagnosis of LOPD were recorded. All had...

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PMID: 27649523
DOI: 10.1002/mus.25413

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