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

Neuromuscular Disorders

Volumn 21, Issue 5, 2011, Pages 328-337

  Vernengo, Luis ^a   Oliveira, Jorge ^b   Krahn, Martin ^c,d   Vieira, Emilia ^b   Santos, Rosário ^b,e   Carrasco, Luisa ^f   Negrão, Luís ^g   Panuncio, Ana ^h   Leturcq, France ⁱ   Labelle, Veronique ^c   Bronze da Rocha, Elsa ^c,j   Mesa, Rosario ^h   Pizzarossa, Carlos ^h   Lévy, Nicolas ^c,d   Rodriguez, Maria Mirta ^a  

^a DEPARTAMENTO DE BIOQUÍMICA   (Uruguay)

^b NATIONAL INSTITUTE OF HEALTH   (Portugal)

^c TIMONE HOSPITAL   (France)

^d AIX MARSEILLE UNIVERSITY   (France)

^e UNIVERSITY OF PORTO   (Portugal)

^f HOSPITAL MACIEL   (Uruguay)

^g CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^h UNIVERSIDAD DE LA REPÚBLICA   (Uruguay)

ⁱ Department of Genetic Biochemistry ^*  (France)

^j UNIVERSITY OF PORTO   (Portugal)

more..

Author keywords

Founder mutation; HyperCKemia; LGMD2B; Miyoshi myopathy; Primary dysferlinopathies

Indexed keywords

AZATHIOPRINE; IMMUNOGLOBULIN; PREDNISONE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; DYSFERLIN GENE; ECHOGRAPHY; EXON; FEMALE; FOUNDER EFFECT; GENE; GENE DELETION; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INTRON; MALE; MIGRATION; MIYOSHI MYOPATHY; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOSITIS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PLESIOMORPHY; PRIORITY JOURNAL; RNA SPLICING; SCHOOL CHILD; SOUTH AMERICA;

EID: 79955480653     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2011.02.003     Document Type: Article

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