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Article

Glutaric aciduria type 2, late onset type in Thai siblings with myopathy.

Pediatric neurology - 1 Oct 2010

Wasant Pornswan, Kuptanon Chulaluck, Vattanavicharn Nithiwat, Liammongkolkul Somporn, Ratanarak Pisanu, Sangruchi Tumtip, Yamaguchi Seiji

Abstract excerpt

Reported here is a novel presentation of late onset glutaric aciduria type 2 in two Thai siblings. A 9-year-old boy presented with gradual onset of proximal muscle weakness for 6 weeks. The initial diagnosis was postviral myositis, and then polymyositis. Electromyography and nerve conduction velocity testing indicated a myopathic pattern. Muscle biopsy revealed excessive accumulation of fat. Acylcarnitine...

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Identifiers

PMID: 20837308
DOI: 10.1016/j.pediatrneurol.2010.05.018

Genes

ETFDH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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