A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient

Journal of Neurology

Volumn 258, Issue 6, 2011, Pages 1157-1163

  Dubourg, Odile ^a   Maisonobe, Thierry ^a   Behin, Anthony ^a   Suominen, Tiina ^b   Raheem, Olayinka ^b   Penttilä, Sini ^b   Parton, Matt ^c   Eymard, Bruno ^a   Dahl, Arve ^d   Udd, Bjarne ^b,e,f  

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^b TAMPERE UNIVERSITY HOSPITAL   (Finland)

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

^d OSLO UNIVERSITY HOSPITAL   (Norway)

^e UNIVERSITY OF HELSINKI   (Finland)

^f VAASA CENTRAL HOSPITAL   (Finland)

Author keywords

Distal myopathy; MPD1; MYH7 gene; Myosin heavy chain

Indexed keywords

GENOMIC DNA; GLUTAMIC ACID; MYOSIN HEAVY CHAIN BETA;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DISTAL MYOPATHY; ECHOCARDIOGRAPHY; ELECTROMYOGRAPHY; FEMALE; FINLAND; FRANCE; GASTROCNEMIUS MUSCLE; GENE; GENE DELETION; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LAING DISTAL MYOPATHY; LIMB WEAKNESS; MALE; MUSCLE BIOPSY; MYH 7 GENE; NERVE CONDUCTION; NORWAY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; ONSET AGE; PEDIGREE ANALYSIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; TIBIALIS ANTERIOR MUSCLE;

ADENOSINE TRIPHOSPHATASES; ADULT; CARDIAC MYOSINS; CHILD, PRESCHOOL; DISTAL MYOPATHIES; ELECTROMYOGRAPHY; EUROPEAN CONTINENTAL ANCESTRY GROUP; FAMILY HEALTH; FEMALE; FRANCE; GLYCINE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MYOCARDIUM; MYOSIN HEAVY CHAINS; SEQUENCE DELETION; TRINUCLEOTIDE REPEAT EXPANSION; YOUNG ADULT;

EID: 79959829744     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-011-5900-9     Document Type: Article

References (19)

1. Udd B (2007) Distal myopathies. In: Hilton-Jones D, Mastaglia F (eds) Clinical handbook of neurology 3rd edition, Volume: myopathies and muscle diseases. Elsevier, Amsterdam pp 215-242
2. NG Laing BA Laing C Meredith SD Wilton P Robbins K Honeyman S Dorosz H Kozman FL Mastaglia BA Kakulas 1995 Autosomal dominant distal myopathy: linkage to chromosome 14 Am J Hum Genet 56 422 427 1:CAS:528:DyaK2MXkslajtbg%3D 7847377
3. C Meredith R Herrmann C Parry K Liyanage DE Dye HJ Durling RM Duff K Beckman M de Visser MM van der Graaff P Hedera JK Fink EM Petty P Lamont V Fabian L Bridges T Voit FL Mastaglia NG Laing 2004 Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1) Am J Hum Genet 75 703 708 10.1086/424760 1:CAS:528:DC%2BD2cXnvFakurw%3D 15322983 (Pubitemid 39244785)
4. PJ Lamont B Udd FL Mastaglia M de Visser P Hedera T Voit LR Bridges V Fabian A Rozemuller NG Laing 2006 Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy J Neurol Neurosurg Psychiatry 77 208 215 10.1136/jnnp.2005.073825 1:STN:280: DC%2BD28%2FjtlGitw%3D%3D 16103042 (Pubitemid 43220845)
5. K Viala L Renié T Maisonobe A Béhin J Neil JM Leger P Bouche 2004 Follow-up study and response to treatment in 23 patients with Lewis-Sumner syndrome Brain 127 2010 2017 10.1093/brain/awh222 1:STN:280:DC%2BD2cvhsFOluw%3D%3D 15289267 (Pubitemid 39150259)
6. C Wallgren-Pettersson V-L Lehtokari H Kalimo A Paetau E Nuutinen P Hackman C Sewry K Pelin B Udd 2007 Distal myopathy caused by homozygous missense mutations in the nebulin gene Brain 130 1465 1476 10.1093/brain/awm094 17525139 (Pubitemid 47355931)
7. O Raheem S Huovinen H Haapasalo B Udd 2010 Novel myosin heavy chain immunohistochemical double staining developed for the routine diagnostic separation of I, IIA and IIX fibers Acta Neuropathol 119 495 500 10.1007/s00401-010-0643-8 1:CAS:528:DC%2BC3cXjs1aisrw%3D 20107819
8. AA Geisterfer-Lowrance S Kass G Tanigawa HP Vosberg W McKenna CE Seidman JG Seidman 1990 A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation Cell 62 999 1006 10.1016/0092-8674(90)90274-I 1:CAS:528:DyaK3cXmtVGqs7w%3D 1975517 (Pubitemid 20269146)
9. M Kamisago SD Sharma SR DePalma S Solomon P Sharma B McDonough L Smoot MP Mullen PK Woolf ED Wigle JG Seidman CE Seidman 2000 Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy N Engl J Med 343 1688 1696 10.1056/NEJM200012073432304 1:CAS:528:DC%2BD3cXovVGhu74%3D 11106718
10. H Tajsharghi LE Thornell C Lindberg B Lindvall KG Henriksson A Oldfors 2003 Myosin storage myopathy associated with a heterozygous missense mutation in MYH7 Ann Neurol 54 494 500 10.1002/ana.10693 1:CAS:528:DC%2BD3sXosFCksLk%3D 14520662 (Pubitemid 37176545)
11. S Bohlega SN Abu-Amero SM Wakil P Carroll R Al-Amr B Lach Y Al-Sayed EJ Cupler BF Meyer 2004 Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy Neurology 62 1518 1521 1:CAS:528: DC%2BD2cXjt1yltbc%3D 15136674 (Pubitemid 38608188)
12. FL Mastaglia BA Phillips LA Cala C Meredith S Egli PA Akkari NG Laing 2002 Early onset chromosome 14-linked distal myopathy (Laing) Neuromuscul Disord 12 350 357 10.1016/S0960-8966(01)00287-5 1:STN:280:DC%2BD38zhvFSltw%3D%3D 12062252 (Pubitemid 34327209)
13. P Hedera EM Petty MR Bui M Blaivas JK Fink 2003 The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis Arch Neurol 60 1321 1325 10.1001/archneur.60.9.1321 12975303 (Pubitemid 37099644)
14. N Muelas P Hackman H Luque M Garcés-Sánchez I Azorín T Suominen T Sevilla F Mayordomo L Gómez P Martí J María Millán B Udd JJ Vílchez 2010 MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy Neurology 75 732 741 10.1212/WNL.0b013e3181eee4d5 1:CAS:528:DC%2BC3cXhtVGrt7vE 20733148
15. S Overeem HJ Schelhaas PJ Blijham MI Grootscholten HJ ter Laak J Timmermans A van den Wijngaard MJ Zwarts 2007 Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation Neuromuscul Disord 17 490 493 10.1016/j.nmd.2007.02.007 1:STN:280:DC%2BD2szhsV2qtw%3D%3D 17383184 (Pubitemid 46783445)
16. A Béhin O Dubourg P Laforêt C Pêcheux R Bernard N Lévy B Eymard 2008 [Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis] Rev Neurol (Paris) 164 434 443 (Pubitemid 351893091)
17. F Zimprich A Djamshidian JA Hainfellner H Budka J Zeitlhofer 2000 An autosomal dominant early adult-onset distal muscular dystrophy Muscle Nerve 23 1876 1879 10.1002/1097-4598(200012)23:12<1876::AID-MUS13>3.0.CO;2-A 1:STN:280:DC%2BD3M%2FmsVyktQ%3D%3D 11102913
18. FL Mastaglia NG Laing 1996 Investigation of muscle disease J Neurol Neurosurg Psychiatry 60 256 274 10.1136/jnnp.60.3.256 1:STN:280: DyaK283gvVektg%3D%3D 8609501 (Pubitemid 26081138)
19. T Voit P Kutz B Leube E Neuen-Jacob JM Schröder D Cavallotti ML Vaccario J Schaper P Broich R Cohn M Baethmann G Göhlich-Ratmann C Scoppetta R Herrmann 2001 Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus Neuromuscul Disord 11 11 19 10.1016/S0960-8966(00) 00158-9 1:STN:280:DC%2BD3M3jtl2rtw%3D%3D 11166161 (Pubitemid 32106877)