Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America

• Type: Article in International Scientific Journal
• Date: 2011

Authors

Luis Vernengo (Author) Other; Jorge Oliveira (Author) Other; Martin Krahn (Author) Other; Emilia Vieira (Author) Other; Rosario Santos (Author) Other; Luisa Carrasco (Author) Other; Luis Negrao (Author) Other; Ana Panuncio (Author) Other; France Leturcq (Author) Other; Veronique Labelle (Author) Other; Elsa Bronze da Rocha (Author) FFUP; Rosario Mesa (Author) Other; Carlos Pizzarossa (Author) Other; Nicolas Levy (Author) Other; Maria Mirta Rodriguez (Author) Other

Journal

Title: Neuromuscular Disorders

Vol. 21

Pages: 328-337

ISSN: 0960-8966

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 10 Citations

Scopus - 10 Citations

Scientific classification

FOS: Medical and Health sciences > Clinical medicine

Other information

Authenticus ID: P-002-RR1

DOI: 10.1016/j.nmd.2011.02.003

Abstract (EN): Primary dysferlinopathies are a group of recessive heterogeneous muscular dystrophies. The most common clinical presentations are Miyoshi myopathy and LGMD2B. Additional presentations range from isolated hyperCKemia to severe functional disability. Symptomatology begins in the posterior muscle compartment of the calf and its clinical course progresses slowly in Miyoshi myopathy whereas LGMD2B involves predominantly the proximal muscles of the lower limbs. The age of onset ranges from 13 to 60 years in Caucasians. We present five patients that carry a novel mutation in the exon12/intron12 boundary: c.1180_1180 + 7delAGTGCGTG (r.1054_1284del). We provide evidence of a founder effect due to a common ancestral origin of this mutation, detected in heterozygosity in four patients and in homozygosity in one patient.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 10