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Article

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study.

Neuromuscular disorders : NMD - 1 Dec 2012

Ciccolella Marianna, Catteruccia Michela, Benedetti Sabina, Moroni Isabella, Uziel Graziella, Pantaleoni Chiara, Chiapparini Luisa, Bizzi Alberto, D'Amico Adele, Fattori Fabiana, Salsano Maria Letizia, Pastore Anna, Tozzi Giulia, Piemonte Fiorella, Bertini Enrico

Abstract excerpt

Brown-Vialetto-van Laere (BVVL) and Fazio-Londe (FL) are rare and clinically overlapping motor neurons syndromes. Recently BVVL has been associated with mutations in C20orf54/hRFT2 and defective riboflavin transport. We compared clinical and laboratory features of 6 patients (age range 11-17 years), with features of BVVL and FL overlap syndromes. Patients were assessed as following: blood levels of riboflavin and...

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Identifiers

PMID: 22824638
DOI: 10.1016/j.nmd.2012.05.007

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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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