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Article

Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis.

American journal of medical genetics - 10 Sept 1999

Cox P M, Brueton L A, Murphy K W, Worthington V C, Bjelogrlic P, Lazda E J, Sabire N J, Sewry C A

Abstract excerpt

We report on 3 consecutive sib fetuses, presenting at 13, 12, and 13 weeks of gestation, respectively, with fetal hydrops, limb contractures, and akinesia. Autopsy of the first fetus showed subcutaneous fluid collections and severe degeneration of skeletal muscle. Histologic studies demonstrated massive accumulation of diastase-resistant periodic acid-Schiff-positive material in the skeletal muscle cells and...

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Identifiers

PMID: 10449659
DOI: 10.1002/(sici)1096-8628(19990910)86:2<187::aid-ajmg20>3.0.co;2-7

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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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