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Article

Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families.

Journal of pediatric endocrinology & metabolism : JPEM - 28 Apr 2020

Ullah Aman, Zubaida Bibi, Cheema Huma Arshad, Naeem Muhammad

Abstract excerpt

Background Pompe disease (PD) is an autosomal recessive metabolic myopathy with an average incidence of one in 40,000 live births. It has a variable age of onset and can be diagnosed within the first 3 months. Heart involvement and muscle weakness are its primary manifestations. Case presentation We describe two families affected by PD with two rare, novel variants. To date, pathogenic variants in acid...

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PMID: 32049654
DOI: 10.1515/jpem-2019-0477

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