Exclusion of mutations in the dysferlin alternative exons 1 of DYSF-v1, 5a, and 40a in a cohort of 26 patients

Genetic Testing and Molecular Biomarkers

Volumn 14, Issue 1, 2010, Pages 153-154

  Krahn, Martin ^a,b   Labelle, Véronique ^a   Borges, Ana ^a,b   Bartoli, Marc ^b   Lévy, Nicolas ^a,b  

^a TIMONE HOSPITAL   (France)

^b INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DYSFERLIN;

ARTICLE; CLINICAL ARTICLE; COHORT ANALYSIS; EXON; GENE MUTATION; GENOMICS; HUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; SINGLE NUCLEOTIDE POLYMORPHISM;

BASE SEQUENCE; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EXONS; HUMANS; INTRONS; MEMBRANE PROTEINS; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA SPLICE SITES;

EID: 76949092278     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2009.0131     Document Type: Article

References (6)

1. Bashir R, Britton S, Strachan T, et al. (1998) A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 20: 37-42.
2. Krahn M, Beroud C, Labelle V, et al. (2009) Analysis of the DYSF mutational spectrum in a large cohort of patients. Hum Mutat 30:E345-E375.
3. Liu J, Aoki M, Illa I, et al. (1998) Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 20:31-36.
4. Pramono ZA, Lai PS, Tan CL, et al. (2006) Identification and characterization of a novel human dysferlin transcript: dysferlin- v1. Hum Genet 120:410-419.
5. Pramono ZA, Tan CL, Seah IA, et al. (2009) Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms. Hum Genet 125:413-420.
6. Urtizberea JA, Bassez G, Leturcq F, et al. (2008) Dysferlinopathies. Neurol India 56:289-297.