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Late onset Pompe Disease in India - Beyond the Caucasian phenotype.

Neuromuscular disorders : NMD - 1 May 2021

Puri Ratna Dua, Setia Nitika, N Vinu, Jagadeesh Sujatha, Nampoothiri Sheela, Gupta Neerja, Muranjan Mamta, Bhat Meenakshi, Girisha Katta M, Kabra Madhulika, Verma Jyotsna, Thomas Divya C, Biji Ishpreet, Raja Jayarekha, Makkar Ravinder, Verma Ishwar C, Kishnani Priya S

Abstract excerpt

We evaluated the clinical histories, motor and pulmonary functions, cardiac phenotypes and GAA genotypes of an Indian cohort of twenty patients with late onset Pompe disease (LOPD) in this multi-centre study. A mean age at onset of symptoms and diagnosis of 9.9 ± 9.7 years and 15.8 ± 12.1 years respectively was identified. All patients had lower extremity limb-girdle muscle weakness. Seven required ventilatory...

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PMID: 33741225
DOI: 10.1016/j.nmd.2021.02.013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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