Whole-genome sequencing and the clinician: A tale of two cities

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 85, Issue 9, 2014, Pages 1012-1015

  Foley, A Reghan ^a   Pitceathly, Robert D S ^b   He, Jie ^c,d   Kim, Jihee ^e   Pearson, Nathaniel M ^c,f   Muntoni, Francesco ^a   Hanna, Michael G ^b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^c Knome Inc   (United States)

^d FOUNDATION MEDICINE   (United States)

^e ROYAL VETERINARY COLLEGE   (United Kingdom)

^f Ingenuity Systems Inc   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 6; CREATINE KINASE;

ADULT; ARTICLE; BETHLEM MYOPATHY; CASE REPORT; COL6A1 GENE; COL6A2 GENE; COL6A3 GENE; CREATINE KINASE BLOOD LEVEL; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; EMERY DREIFUSS MUSCULAR DYSTROPHY; FAMILY HISTORY; FEMALE; FLOW CYTOMETRY; GENETIC VARIABILITY; GENOMICS; HETEROZYGOSITY; HIGH THROUGHPUT SEQUENCING; HUMAN; IMMUNOCYTOCHEMISTRY; JOINT CONTRACTURE; MALE; MUSCLE BIOPSY; MUSCLE NECROSIS; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PATIENT COUNSELING; PHENOTYPE; PRIORITY JOURNAL; RECTUS FEMORIS MUSCLE; SARCOGLYCANOPATHY; SGCA GENE; SGCG GENE; SKIN BIOPSY; TENDON DISEASE; TENDON REFLEX; VASTUS LATERALIS MUSCLE; WHOLE GENOME SEQUENCING;

COLLAGEN; GENETICS; MYOPATHY;

ADULT; COLLAGEN TYPE VI; CONTRACTURE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETICS, MEDICAL; GENOME, HUMAN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INDIVIDUALIZED MEDICINE; MAGNETIC RESONANCE IMAGING; MALE; MUSCULAR DYSTROPHIES; NEUROMUSCULAR DISEASES;

EID: 84905595265     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2013-306264     Document Type: Article

References (15)

1. Lupski JR, Reid JG, Gonzaga-Jauregui C, et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med 2010;362:1181-91.
2. Dubowitz V, Sewry CA. Muscle biopsy: a practical approach. 3rd edn. Philadelphia: Saunders/Elsevier, 2007.
3. Straub V, Carlier PG, Mercuri E. TREAT-NMD workshop: pattern recognition in genetic muscle diseases using muscle MRI: 25-26 February 2011, Rome, Italy. Neuromuscul Disord 2012;22(Suppl 2):S42-53.
4. Mercuri E, Lampe A, Allsop J, et al. Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromuscul Disord 2005;15:303-10. (Pubitemid 40431936)
5. Morrow JM, Pitceathly RD, Quinlivan RM, et al. Muscle MRI in Bethlem myopathy. BMJ Case Rep. Published online: 16 April 2013.
6. Jöbsis GJ, Bolhuis PA, Boers JM, et al. Genetic localization of Bethlem myopathy. Neurology 1996;46:779-82.
7. Jöbsis GJ, Keizers H, Vreijling JP, et al. Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. Nat Genet 1996;14:113-15.
8. Pan TC, Zhang RZ, Pericak-Vance MA, et al. Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. Hum Mol Genet 1998;7:807-12. (Pubitemid 28221243)
9. Pace RA, Peat RA, Baker NL, et al. Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. Ann Neurol 2008;64:294-303.
10. Foley AR, Hu Y, Zou Y, et al. Autosomal recessive inheritance of classic Bethlem myopathy. Neuromuscul Disord 2009;19:813-17.
11. Gualandi F, Urciuolo A, Martoni E, et al. Autosomal recessive Bethlem myopathy. Neurology 2009;73:1883-91.
12. Kim J, Jimenez-Mallebrera C, Foley AR, et al. Flow cytometry analysis: a quantitative method for collagen VI deficiency screening. Neuromuscul Disord 2012;22:139-48.
13. Mercuri E, Clements E, Offiah A, et al. Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. Ann Neurol 2010;67:201-8.
14. Phimister EG, Feero WG, Guttmacher AE. Realizing genomic medicine. N Engl J Med 2012;366:757-9.
15. Dickens C. A tale of two cities. London: Chapman and Hall, 1859.