199th ENMC international workshop: FHL1 related myopathies, June 7-9, 2013, Naarden, The Netherlands

Neuromuscular Disorders

Volumn 24, Issue 5, 2014, Pages 453-462

  Bertrand, Anne T ^a,b   Bönnemann, Carsten G ^c   Bonne, Gisèle ^a,b,d   Battini, Roberta ^e   Carrier, Lucie ^e   Cuello, Friederike ^e   Domenighetti, Andrea A ^e   Geier, Christian ^e   Gramolini, Anthony ^e   Hayashi, Yukiko ^e   Hirano, Michio ^e   McGrath, Meagan ^e   Mitchell, Christina ^e   Rooney, Jachinta ^e   Romero, Norma B ^e   Schessl, Joachim ^e   Selcen, Duygu ^e   Sewry, Caroline ^e   Shalaby, Sherine ^e   Windpassinger, Christian ^e  

^a Sorbonne Université   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e NONE

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; CREATINE KINASE; FHL1 PROTEIN; FHL1A PROTEIN; ISOPROTEIN; UNCLASSIFIED DRUG; FHL1 PROTEIN, HUMAN; LIM PROTEIN; MUSCLE PROTEIN; SIGNAL PEPTIDE;

ARTICLE; CLINICAL FEATURE; FHL1 GENE; GENE; GENE IDENTIFICATION; GENETIC ASSOCIATION; HEART HYPERTROPHY; HETEROZYGOSITY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE CELL; MUSCLE HYPERTROPHY; MUSCLE WEAKNESS; MYOPATHY; NONHUMAN; ONSET AGE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN INTERACTION; PROTEIN LOCALIZATION; PROTEOMICS; ANIMAL; DISEASE COURSE; DRUG EFFECTS; GENETICS; HEART; METABOLISM; MUSCLE; MUSCULAR DISEASES; PATHOLOGY; PHENOTYPE;

ANIMALS; DISEASE PROGRESSION; HEART; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LIM DOMAIN PROTEINS; MUSCLE PROTEINS; MUSCLES; MUSCULAR DISEASES; PHENOTYPE; PROTEIN ISOFORMS;

EID: 84899052610     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2014.02.002     Document Type: Article

References (32)

1. Cowling B.S., Cottle D.L., Wilding B.R., et al. Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features. Neuromuscul Disord 2011.
2. McGrath M.J., Cottle D.L., Nguyen M.A., et al. Four and a half LIM protein 1 binds myosin-binding protein C and regulates myosin filament formation and sarcomere assembly. J Biol Chem 2006, 281:7666-7683.
3. Cowling B.S., McGrath M.J., Nguyen M.A., et al. Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy. J Cell Biol 2008, 183:1033-1048.
4. Schessl J., Zou Y., McGrath M.J., et al. Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. J Clin Invest 2008, 118:904-912.
5. Windpassinger C., Schoser B., Straub V., et al. An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am J Hum Genet 2008, 82:88-99.
6. Quinzii C.M., Vu T.H., Min K.C., et al. X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. Am J Hum Genet 2008, 82:208-213.
7. Gueneau L., Bertrand A.T., Jais J.P., et al. Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. Am J Hum Genet 2009, 85:338-353.
8. Friedrich F.W., Wilding B.R., Reischmann S., et al. Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy. Hum Mol Genet 2012, 21:3237-3254.
9. Sarkozy A., Bushby K., Beroud C., Lochmuller H. 157th ENMC international workshop: patient registries for rare, inherited muscular disorders 25-27 January 2008 Naarden, The Netherlands. Neuromuscul Disord 2008, 18:997-1001.
10. Schoser B., Goebel H.H., Janisch I., et al. Consequences of mutations within the C terminus of the FHL1 gene. Neurology 2009, 73:543-551.
11. Schessl J., Taratuto A.L., Sewry C., et al. Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. Brain 2009, 132:452-464.
12. Feldkirchner S., Walter M.C., Muller S., et al. Proteomic characterization of aggregate components in an intrafamilial variable FHL1-associated myopathy. Neuromuscul Disord 2013, 23:418-426.
13. Schreckenbach T., Henn W., Kress W., et al. Novel FHL1 mutation in a family with reducing body myopathy. Muscle Nerve 2013, 47:127-134.
14. Goebel H.H., Halbig L.E., Goldfarb L., et al. Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy. Neuropediatrics 2001, 32:196-205.
15. Schessl J., Columbus A., Hu Y., et al. Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1. Neuropediatrics 2010, 41:43-46.
16. Astrea G., Schessl J., Clement E., et al. Muscle MRI in FHL1-linked reducing body myopathy. Neuromuscul Disord 2009, 19:689-691.
17. Shalaby S., Hayashi Y.K., Goto K., et al. Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1). Neuromuscul Disord 2008, 18:959-961.
18. Shalaby S., Hayashi Y.K., Nonaka I., Noguchi S., Nishino I. Novel FHL1 mutations in fatal and benign reducing body myopathy. Neurology 2009, 72:375-376.
19. Komagamine T., Kawai M., Kokubun N., et al. Selective muscle involvement in a family affected by a second LIM domain mutation of fhl1: an imaging study using computed tomography. J Neurol Sci 2012, 318:163-167.
20. Liewluck T., Hayashi Y.K., Ohsawa M., et al. Unfolded protein response and aggresome formation in hereditary reducing-body myopathy. Muscle Nerve 2007, 35:322-326.
21. Binder J.S., Weidemann F., Schoser B., et al. Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene. Circ Cardiovasc Genet 2012, 5:490-502.
22. Poparic I., Schreibmayer W., Schoser B., et al. Four and a half LIM protein 1C (FHL1C): a binding partner for voltage-gated potassium channel K(v1.5). PLoS One 2011, 6:e26524.
23. Knoblauch H., Geier C., Adams S., et al. Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation. Ann Neurol 2010, 67:136-140.
24. Malfatti E., Olive M., Taratuto A.L., et al. Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders. J Neuropathol Exp Neurol 2013, 72:833-845.
25. Sharma M.C., Goebel H.H. Protein aggregate myopathies. Neurol India 2005, 53:273-279.
26. Selcen D., Bromberg M.B., Chin S.S., Engel A.G. Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy. Neurology 2011, 77:1951-1959.
27. Domenighetti A.A., Chu P.H., Wu T., et al. Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice. Hum Mol Genet 2014, 23:209-225.
28. Crocini C., Arimura T., Reischmann S., et al. Impact of ANKRD1 mutations associated with hypertrophic cardiomyopathy on contraction parameters of engineered heart tissue. Basic Res Cardiol 2013, 108:349.
29. Sarikas A., Carrier L., Schenke C., et al. Impairment of the ubiquitin-proteasome system by truncated cardiac myosin binding protein C mutants. Cardiovasc Res 2005, 66:33-44.
30. Sharma P., Shathasivam T., Ignatchenko V., Kislinger T., Gramolini A.O. Identification of an FHL1 protein complex containing ACTN1, ACTN4, and PDLIM1 using affinity purifications and MS-based protein-protein interaction analysis. Mol Biosyst 2011, 7:1185-1196.
31. Feldkirchner S., Schessl J., Muller S., Schoser B., Hanisch F.G. Patient-specific protein aggregates in myofibrillar myopathies: laser microdissection and differential proteomics for identification of plaque components. Proteomics 2012, 12:3598-3609.
32. American College of Cardiology Foundation/American Heart Association Task Force on Practice G, American Association for Thoracic S, American Society of E, et al. ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American college of cardiology foundation/American heart association task force on practice guidelines. J Thorac Cardiovasc Surg 2011, 142:1303-1338.