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Article

Neurofibromatosis type 1 (NF1) with an unusually severe phenotype due to digeny for NF1 and ryanodine receptor 1 associated myopathy.

European journal of pediatrics - 1 Dec 2014

Martin Florence, Kana Veronika, Mori Andrea Capone, Fischer Dirk, Parkin Nicolas, Boltshauser Eugen, Rushing Elisabeth Jane, Klein Andrea

Abstract excerpt

UNLABELLED: We describe a 5-year-old girl with marked hypotonia, poor feeding and reduced facial expression since birth. Congenital myopathy was suspected; muscle biopsy showed unspecific type 1 fibre predominance. The possibility of a ryanodine receptor 1 gene (RYR1)-associated myopathy was cons...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Ryanodine Receptor Calcium Release Channel

Source

Identifiers

PMID: 24706162
DOI: 10.1007/s00431-014-2314-6

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24706162-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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