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Article

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.

Brain : a journal of neurology - 1 Jun 2011

Auer-Grumbach Michaela, Weger Martin, Fink-Puches Regina, Papić Lea, Fröhlich Eleonore, Auer-Grumbach Piet, El Shabrawi-Caelen Laila, Schabhüttl Maria, Windpassinger Christian, Senderek Jan, Budka Herbert, Trajanoski Slave, Janecke Andreas R, Haas Anton, Metze Dieter, Pieber Thomas R, Guelly Christian

Abstract excerpt

To identify the disease-causing gene responsible for an autosomal dominantly inherited Charcot-Marie-Tooth neuropathy subtype in a family excluded for mutations in the common Charcot-Marie-Tooth genes, we used array-based sequence capture to simultaneously analyse the disease-linked protein coding exome at chromosome 14q32. A missense mutation in fibulin-5, encoding a widely expressed constituent of the...

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Identifiers

PMID: 21576112
DOI: 10.1093/brain/awr076
PMCID: PMC3272386

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