Erratum to Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients [Muscle Nerve. 50, 6, (2015) 1007-1010] DOI:10.1002/mus.24344;Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients

Muscle and Nerve

Volumn 50, Issue 6, 2014, Pages 1007-1010

  Bartoli, Marc ^a,b   Desvignes, Jean Pierre ^a   Nicolas, Levy ^a,b   Martin, Krahn ^a,b  

^a AIX MARSEILLE UNIVERSITY   (France)

^b TIMONE HOSPITAL   (France)

Author keywords

Diagnosis; Distal myopathy; Dysferlin exome; LGMD

Indexed keywords

DYSF PROTEIN, HUMAN; MEMBRANE PROTEIN; MUSCLE PROTEIN;

COHORT ANALYSIS; DISTAL MYOPATHIES; DNA SEQUENCE; EVALUATION STUDY; EXOME; GENETIC SCREENING; GENETICS; HUMAN; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; PROCEDURES;

COHORT STUDIES; DISTAL MYOPATHIES; EXOME; GENETIC TESTING; HUMANS; MEMBRANE PROTEINS; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 84912070250     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.24596     Document Type: Erratum

References (11)

1. Dias C, Sincan M, Cherukuri PF, Rupps R, Huang Y, Briemberg H, et al. An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia. Hum Mutat 2012;33:614-626.
2. Bushby K. Diagnosis and management of the limb girdle muscular dystrophies. Pract Neurol 2009;9:314-323.
3. Urtizberea JA, Bassez G, Leturcq F, Nguyen K, Krahn M, Levy N. Dysferlinopathies. Neurol India 2008;56:289-297.
4. Krahn M, Beroud C, Labelle V, Nguyen K, Bernard R, Bassez G, et al. Analysis of the DYSF mutational spectrum in a large cohort of patients. Hum Mutat 2009;30:E345-375.
5. DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 2011;43:491-498.
6. Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010;38:e164.
7. Nguyen K, Bassez G, Bernard R, Krahn M, Labelle V, Figarella-Branger D, et al. Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. Hum Mutat 2005;26:165.
8. Robinson JT, Thorvaldsdottir H, Winckler W, Guttman M, Lander ES, Getz G, et al. Integrative genomics viewer. Nat Biotechnol 2011;29:24-26.
9. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010;7:248-249.
10. Desmet FO, Hamroun D, Lalande M, Collod-Beroud G, Claustres M, Beroud C. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 2009;37:e67.
11. Neveling K, Feenstra I, Gilissen C, Hoefsloot LH, Kamsteeg EJ, Mensenkamp AR, et al. A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat 2013;34:1721-1726.