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Article

Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes.

Archives of neurology - 1 Oct 2003

Mancuso Michelangelo, Filosto Massimiliano, Tsujino Seiichi, Lamperti Costanza, Shanske Sara, Coquet Michéle, Desnuelle Claude, DiMauro Salvatore

Abstract excerpt

OBJECTIVES: To document 2 apparently incongruous clinical disorders occurring in the same infant: congenital myopathy with myophosphorylase deficiency (McArdle disease) and mitochondrial hepatopathy with liver failure and mitochondrial DNA depletion. METHODS: An infant girl born to consanguineous Moroccan parents had severe congenital hypotonia and hepatomegaly, developed liver failure, and died at 5 months of...

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Identifiers

PMID: 14568816
DOI: 10.1001/archneur.60.10.1445

Genes

PYGM

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

Source receipt: pubmed, retrieved 5 Sept 2026.

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