Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.

[1]  J. Schwartzentruber,et al.  Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy , 2016, Human Mutation.

[2]  I. Nelson,et al.  Myofibrillar myopathies: State of the art, present and future challenges. , 2015, Revue neurologique.

[3]  X. Puente,et al.  Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy , 2014, Nature Communications.

[4]  M. Hauser,et al.  Exome Analysis of Two Limb-Girdle Muscular Dystrophy Families: Mutations Identified and Challenges Encountered , 2012, PloS one.

[5]  L. Waddell,et al.  Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late‐onset cerebellar ataxia , 2012, Muscle & nerve.

[6]  Hanns Lochmüller,et al.  Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency , 2011, Neurology.

[7]  M. Bromberg,et al.  Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy , 2011, Neurology.

[8]  Robert H. Brown,et al.  Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. , 2011, American journal of human genetics.

[9]  D. Selcen Myofibrillar myopathies , 2011, Neuromuscular Disorders.

[10]  K. Sugimoto,et al.  Identification of Novel Nuclear Protein Interactions with the N-Terminal Part of Filamin A , 2011, Bioscience, biotechnology, and biochemistry.

[11]  C. McCulloch,et al.  Filamin A mediates interactions between cytoskeletal proteins that control cell adhesion , 2011, FEBS letters.

[12]  R. Kley,et al.  The sarcomeric Z-disc component myopodin is a multiadapter protein that interacts with filamin and alpha-actinin. , 2010, European journal of cell biology.

[13]  Wei Zhang,et al.  A novel heterozygous deletion–insertion mutation (2695–2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family , 2010, Neuromuscular Disorders.

[14]  S. Bernasconi,et al.  Mandibuloacral dysplasia type A in childhood , 2009, American journal of medical genetics. Part A.

[15]  S. Heath,et al.  Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. , 2009, American journal of human genetics.

[16]  Xuefan Gu,et al.  Homozygous LMNA mutation R527C in atypical Hutchinson–Gilford progeria syndrome: evidence for autosomal recessive inheritance , 2009, Acta paediatrica.

[17]  M. Urbanek,et al.  The role of genetic variation in the lamin a/c gene in the etiology of polycystic ovary syndrome. , 2009, The Journal of clinical endocrinology and metabolism.

[18]  I. Ferrer,et al.  In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy , 2009, European Journal of Human Genetics.

[19]  F. Muntoni,et al.  Mutation in BAG3 causes severe dominant childhood muscular dystrophy , 2008, Annals of neurology.

[20]  A. Garg,et al.  Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. , 2008, The Journal of clinical endocrinology and metabolism.

[21]  W. Kress,et al.  Association of homozygous LMNA mutation R471C with new phenotype: Mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy , 2008, American journal of medical genetics. Part A.

[22]  C. Heyer,et al.  Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. , 2007, Brain : a journal of neurology.

[23]  S. Simon,et al.  Myopathy-associated αB-crystallin Mutants , 2007, Journal of Biological Chemistry.

[24]  Y. Fukushima,et al.  Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes , 2007, American journal of medical genetics. Part A.

[25]  R. Griggs,et al.  Zaspopathy in a large classic late-onset distal myopathy family. , 2007, Brain : a journal of neurology.

[26]  M. Vorgerd,et al.  The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy. , 2007, Human molecular genetics.

[27]  A. Toutain,et al.  Multitissular involvement in a family with LMNA and EMD mutations , 2007, Neurology.

[28]  H. Van Esch,et al.  A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features. , 2006, The Journal of clinical endocrinology and metabolism.

[29]  R. Boldrini,et al.  Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene , 2005, Neuromuscular Disorders.

[30]  G. Abecasis,et al.  Handling marker-marker linkage disequilibrium: pedigree analysis with clustered markers. , 2005, American journal of human genetics.

[31]  A. Garg,et al.  A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia. , 2005, The Journal of clinical endocrinology and metabolism.

[32]  Hanns Lochmüller,et al.  A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. , 2005, American journal of human genetics.

[33]  Andrew G Engel,et al.  Mutations in ZASP define a novel form of muscular dystrophy in humans , 2005, Annals of neurology.

[34]  K. Heinimann,et al.  Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome , 2004, Journal of Medical Genetics.

[35]  J. Lupski,et al.  Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C , 2003, Journal of medical genetics.

[36]  A. K. Agarwal,et al.  Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy. , 2003, The Journal of clinical endocrinology and metabolism.

[37]  Charles E. Schwartz,et al.  Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans , 2003, Nature Genetics.

[38]  Walter Stöcklein,et al.  The limits of promiscuity: isoform-specific dimerization of filamins. , 2003, Biochemistry.

[39]  M. Pericak-Vance,et al.  myotilin Mutation found in second pedigree with LGMD1A. , 2002, American journal of human genetics.

[40]  G. Scarano,et al.  Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. , 2002, American journal of human genetics.

[41]  C. Stewart,et al.  Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. , 2002, American journal of human genetics.

[42]  A. Sonnenberg,et al.  Structural and functional aspects of filamins. , 2001, Biochimica et biophysica acta.

[43]  L. Kunkel,et al.  Myozenin: An α-actinin- and γ-filamin-binding protein of skeletal muscle Z lines , 2001 .

[44]  D. Fürst,et al.  Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family , 2000, Human Genetics.

[45]  S. Kempa,et al.  Indications for a Novel Muscular Dystrophy Pathway: γ-Filamin, the Muscle-Specific Filamin Isoform, Interacts with Myotilin , 2000 .

[46]  J. Gilbert,et al.  Myotilin is mutated in limb girdle muscular dystrophy 1A. , 2000, Human molecular genetics.

[47]  S. Bione,et al.  Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. , 2000, American journal of human genetics.

[48]  M. Gautel,et al.  Characterization of muscle filamin isoforms suggests a possible role of gamma-filamin/ABP-L in sarcomeric Z-disc formation. , 2000, Cell motility and the cytoskeleton.

[49]  Simon C Watkins,et al.  Filamin 2 (FLN2): A Muscle-specific Sarcoglycan Interacting Protein , 2000 .

[50]  M. Prevost,et al.  A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy , 1998, Nature Genetics.

[51]  J. Nagle,et al.  Missense mutations in desmin associated with familial cardiac and skeletal myopathy , 1998, Nature Genetics.

[52]  A. Engel,et al.  Myofibrillar Myopathy with Abnormal Foci of Desmin Positivity.: I. Light and Electron Microscopy Analysis of 10 Cases , 1996, Journal of neuropathology and experimental neurology.

[53]  M. Vorgerd,et al.  Filamin C-related myopathies: pathology and mechanisms , 2012, Acta Neuropathologica.

[54]  S. Simon,et al.  Myopathy-associated alphaB-crystallin mutants: abnormal phosphorylation, intracellular location, and interactions with other small heat shock proteins. , 2007, Journal of Biological Chemistry.

[55]  J. Beckmann,et al.  Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans. , 2003, Muscle & nerve.

[56]  G. Abecasis,et al.  Merlin—rapid analysis of dense genetic maps using sparse gene flow trees , 2002, Nature Genetics.

[57]  Simon C Watkins,et al.  Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines. , 2001, Proceedings of the National Academy of Sciences of the United States of America.