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Article

A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy.

Molecular genetics and metabolism - 1 Nov 2009

Acham-Roschitz Birgit, Plecko Barbara, Lindbichler Franz, Bittner Reginald, Mache Christoph J, Sperl Wolfgang, Mayr Johannes A

Abstract excerpt

A baby-girl with congenital deafness was admitted at the age of 8 weeks for lack of head control, truncal hypotonia and echodense kidneys. At the age of 10 weeks cranial MRI showed a normal brain structure, generalized mild hypomyelination but no lactate peak on (1)H MR spectroscopy. A combined d...

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PMID: 19616983
DOI: 10.1016/j.ymgme.2009.06.012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19616983-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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