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Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes.

Journal of neuromuscular diseases - 1 Jan 2022

Chawla Tanushree, Preethish-Kumar Veeramani, Polavarapu Kiran, Vengalil Seena, Bardhan Mainak, Puri RatnaDua, Verma Jyotsna, Christopher Rita, Supriya Manjunath, Nashi Saraswati, Prasad Chandrajit, Nadeesh Bevinahalli, Nalini Atchayaram

Abstract excerpt

BACKGROUND: Late onset Pompe disease (LOPD) is rare and generally manifests predominantly as progressive limb girdle muscle weakness. It is linked to the pathogenic mutations in GAA gene, which leads to glycogen accumulation in various tissues. MATERIALS AND METHODS: We describe the unusual clinical, biochemical, histopathological and genetic characteristics of 5 cases of LOPD. RESULTS: The first case had...

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PMID: 34864681
DOI: 10.3233/JND-210728

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