Congenital myopathies: clinical phenotypes and new diagnostic tools
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G. Comi | E. Bertini | M. Pane | E. Mercuri | L. Santoro | A. D’Amico | G. Siciliano | C. Bruno | A. Malandrini | F. Santorelli | P. Tonin | M. Grandis | E. Pegoraro | M. Dotti | C. Minetti | L. Morandi | A. Berardinelli | M. Mora | L. Maggi | M. Moggio | R. Massa | C. Rodolico | A. Toscano | A. Simonati | M. Donati | F. Magri | L. Merlini | C. Fiorillo | A. Rubegni | G. Astrea | R. Trovato | J. Baldacci | D. Cassandrini | V. Nigro | M. Savarese | E. Pennisi | O. Musumeci | L. Peverelli | L. Ruggiero | F. Mari | G. Ricci | M. Sacchini | F. Fattori | M. Maioli | S. Lenzi | Angela Enrico S. Giacomo Adele Maria Alice Maria Teresa F Berardinelli Bertini Comi D’Amico Donati D
[1] L. Wilkins. Outcome of intracerebral hemorrhage associated with different oral anticoagulants , 2018, Neurology.
[2] C. Kubisch,et al. The rapid evolution of molecular genetic diagnostics in neuromuscular diseases. , 2017, Current opinion in neurology.
[3] Sathya D. Unudurthi,et al. A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness , 2017, Human Genetics.
[4] W. Kress,et al. The Genetic Approach: Next-Generation Sequencing-Based Diagnosis of Congenital and Infantile Myopathies/Muscle Dystrophies , 2017, Neuropediatrics.
[5] M. Gautel,et al. Current and future therapeutic approaches to the congenital myopathies. , 2017, Seminars in cell & developmental biology.
[6] F. Muntoni,et al. Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy , 2017, Acta Neuropathologica.
[7] E. Malfatti,et al. Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A , 2017, Neurology.
[8] Linda Groom,et al. Congenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3 , 2016, Proceedings of the National Academy of Sciences.
[9] V. Nigro,et al. Next-generation sequencing approaches for the diagnosis of skeletal muscle disorders. , 2016, Current opinion in neurology.
[10] N. Voermans,et al. Congenital myopathies: not only a paediatric topic. , 2016, Current opinion in neurology.
[11] M. Pane,et al. MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients , 2016, Orphanet Journal of Rare Diseases.
[12] R. Prayson,et al. Congenital fiber-type disproportion. , 2011, Seminars in pediatric neurology.
[13] E. Bertini,et al. Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers , 2016, Neuromuscular Disorders.
[14] F. Santorelli,et al. Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features – a case report , 2016, BMC Medical Genetics.
[15] J. L. Costa,et al. New massive parallel sequencing approach improves the genetic characterization of congenital myopathies , 2016, Journal of Human Genetics.
[16] K. Heje,et al. Aerobic Training in Patients with Congenital Myopathy , 2016, PloS one.
[17] C. Krarup,et al. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy , 2015, Brain : a journal of neurology.
[18] D. MacArthur,et al. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. , 2015, JAMA neurology.
[19] D. Meyre,et al. From big data analysis to personalized medicine for all: challenges and opportunities , 2015, BMC Medical Genomics.
[20] E. Bertini,et al. Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort , 2015, Journal of Neurology.
[21] G. Cioni,et al. A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance. , 2015, Pediatric neurology.
[22] L. Santoro,et al. A rare mutation in MYH7 gene occurs with overlapping phenotype. , 2015, Biochemical and biophysical research communications.
[23] G. Ravenscroft,et al. Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus. , 2015, Brain : a journal of neurology.
[24] E. Bertini,et al. Muscle magnetic resonance imaging and histopathology in ACTA1‐related congenital nemaline myopathy , 2014, Muscle & nerve.
[25] E. Malfatti,et al. Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. , 2014, Brain : a journal of neurology.
[26] S. Gabriel,et al. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. , 2014, The Journal of clinical investigation.
[27] G. Ravenscroft,et al. SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. , 2014, American journal of human genetics.
[28] J. Rossiter,et al. Congenital myopathy with cap-like structures and nemaline rods: case report and literature review. , 2014, Pediatric neurology.
[29] Ching H. Wang,et al. Approach to the diagnosis of congenital myopathies , 2014, Neuromuscular Disorders.
[30] F. Muntoni,et al. Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. , 2013, American journal of human genetics.
[31] Nasim Vasli,et al. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy , 2013, Neurology.
[32] Jasper M. Morrow,et al. Quantitative Muscle MRI as an Assessment Tool for Monitoring Disease Progression in LGMD2I: A Multicentre Longitudinal Study , 2013, PloS one.
[33] E. Bertini,et al. Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. , 2013, American journal of human genetics.
[34] A. Karch,et al. A comparison of tau and 14-3-3 protein in the diagnosis of Creutzfeldt-Jakob disease , 2013, Neurology.
[35] Jeremy W. Linsley,et al. Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy , 2013, Nature Communications.
[36] F. Muntoni,et al. Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom , 2013, Neuromuscular Disorders.
[37] N. Dokholyan,et al. Structural Determinants of Skeletal Muscle Ryanodine Receptor Gating* , 2013, The Journal of Biological Chemistry.
[38] F. Muntoni,et al. Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement , 2012, Neuromuscular Disorders.
[39] M. Koch,et al. Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome , 2012, European Journal of Human Genetics.
[40] Jun Z. Li,et al. Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. , 2012, American journal of human genetics.
[41] J. Y. Kuwada,et al. Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy. , 2012, Brain : a journal of neurology.
[42] Ching H. Wang,et al. Consensus Statement on Standard of Care for Congenital Myopathies , 2012, Journal of child neurology.
[43] M. Tosetti,et al. Muscle MRI in TRPV4-related congenital distal SMA , 2012, Neurology.
[44] Á. Carracedo,et al. A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy , 2011, Neuromuscular Disorders.
[45] K. Claeys,et al. Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization , 2011, Neuropathology and applied neurobiology.
[46] A. Krol,et al. Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency. , 2011, Human Molecular Genetics.
[47] I. Nishino,et al. Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies , 2011, Acta Neuropathologica.
[48] J. Lainé,et al. A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice. , 2010, Human molecular genetics.
[49] F. Mastaglia,et al. Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. , 2010, American journal of human genetics.
[50] S. Omholt,et al. Phenomics: the next challenge , 2010, Nature Reviews Genetics.
[51] Straub,et al. RYR1 mutations are a common cause of congenital myopathies with central nuclei , 2010, Annals of neurology.
[52] K. Bushby,et al. Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion , 2010, Human mutation.
[53] N. Romero. Centronuclear myopathies: A widening concept , 2010, Neuromuscular Disorders.
[54] K. Flanigan,et al. Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy , 2010, Neuromuscular Disorders.
[55] C. Hawkins,et al. Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1 , 2010, Neuromuscular Disorders.
[56] A. Beggs,et al. Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion , 2010, Human mutation.
[57] A. E. Rossi,et al. Characterization and temporal development of cores in a mouse model of malignant hyperthermia , 2009, Proceedings of the National Academy of Sciences.
[58] D. Figarella-Branger,et al. A TPM3 mutation causing cap myopathy , 2009, Neuromuscular Disorders.
[59] M. Tosetti,et al. Muscle MRI in FHL1-linked reducing body myopathy , 2009, Neuromuscular Disorders.
[60] M. Wattjes,et al. Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole‐body 3.0‐T magnetic resonance imaging study , 2009, Acta neurologica Scandinavica.
[61] K. Davies,et al. Rescue of skeletal muscle α-actin–null mice by cardiac (fetal) α-actin , 2009, The Journal of cell biology.
[62] L. Waddell,et al. Cap disease due to mutation of the beta-tropomyosin gene (TPM2) , 2009, Neuromuscular Disorders.
[63] K. Claeys,et al. “Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy , 2009, Acta Neuropathologica.
[64] E. Aronica,et al. TPM2 mutation , 2008, Neuromuscular Disorders.
[65] S. Quijano-roy,et al. New morphologic and genetic findings in cap disease associated with β-tropomyosin (TPM2) mutations , 2008, Neurology.
[66]
R. Durbin,et al.
Mapping Quality Scores Mapping Short Dna Sequencing Reads and Calling Variants Using P ,
2022
.
[67]
N. Romero,et al.
Mutations in TPM3 are a common cause of congenital fiber type disproportion
,
2008,
Annals of neurology.
[68]
S. Salzberg,et al.
Bioinformatics challenges of new sequencing technology.
,
2008,
Trends in genetics : TIG.
[69]
N. Laing.
Congenital myopathies
,
2007,
Current opinion in neurology.
[70]
C. Wallgren‐Pettersson,et al.
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
,
2007,
Nature Genetics.
[71]
Susan C. Brown,et al.
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
,
2007,
Brain : a journal of neurology.
[72]
R. Cerini,et al.
Two novel mutations in dynamin-2 cause axonal Charcot–Marie–Tooth disease
,
2007,
Neurology.
[73]
Tore K Kvien,et al.
Lack of association between the chemokine receptor 5 polymorphism CCR5delta32 in rheumatoid arthritis and juvenile idiopathic arthritis
,
2007,
BMC Medical Genetics.
[74]
H. Jungbluth.
Central core disease.
,
2007,
Orphanet journal of rare diseases.
[75]
D. Torigian,et al.
MRI in DNM2-related centronuclear myopathy: Evidence for highly selective muscle involvement
,
2007,
Neuromuscular Disorders.
[76]
M. Swash,et al.
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene
,
2005,
Neurology.
[77]
S. Ducreux,et al.
Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders
,
2005,
Neuromuscular Disorders.
[78]
A. Beggs,et al.
X-Linked Myotubular and Centronuclear Myopathies
,
2005,
Journal of neuropathology and experimental neurology.
[79]
G. Bydder,et al.
Magnetic resonance imaging of muscle in nemaline myopathy
,
2004,
Neuromuscular Disorders.
[80]
G. Bydder,et al.
Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations
,
2004,
Neuromuscular Disorders.
[81]
I. Nonaka,et al.
Actin mutations are one cause of congenital fibre type disproportion
,
2004,
Annals of neurology.
[82]
M. Main,et al.
Pilot trial of salbutamol in central core and multi-minicore diseases.
,
2004,
Neuropediatrics.
[83]
N. Romero,et al.
Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia.
,
2003,
Brain : a journal of neurology.
[84]
L. Thornell,et al.
Myosin storage myopathy associated with a heterozygous missense mutation in MYH7
,
2003,
Annals of neurology.
[85]
J. Allsop,et al.
Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype
,
2003,
Neuromuscular Disorders.
[86]
F. Hanefeld,et al.
Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle
,
2003,
Journal of the Neurological Sciences.
[87]
M. Krawczak,et al.
Genotype–phenotype correlations in X-linked myotubular myopathy
,
2002,
Neuromuscular Disorders.
[88]
T. Helliwell,et al.
The spectrum of pathology in central core disease
,
2002,
Neuromuscular Disorders.
[89]
G. Bydder,et al.
A short protocol for muscle MRI in children with muscular dystrophies.
,
2002,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
[90]
F. Muntoni,et al.
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.
,
2002,
American journal of human genetics.
[91]
Jean-Jacques Martin,et al.
Workshop report of the 89th ENMC International Workshop: Central Core Disease, 19th–20th January 2001, Hilversum, The Netherlands
,
2002,
Neuromuscular Disorders.
[92]
A. Lemainque,et al.
A recessive form of central core disease, transiently presenting as multi‐minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene
,
2002,
Annals of neurology.
[93]
M. Ridanpää,et al.
Mutations in the β-tropomyosin (TPM2) gene – a rare cause of nemaline myopathy
,
2002,
Neuromuscular Disorders.
[94]
N. Tubridy,et al.
Congenital myopathies and congenital muscular dystrophies
,
2001,
Current opinion in neurology.
[95]
A. Beggs,et al.
Nemaline myopathy: A clinical study of 143 cases
,
2001,
Annals of neurology.
[96]
A A Schäffer,et al.
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.
,
2000,
American journal of human genetics.
[97]
G. Superti-Furga,et al.
Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway.
,
2000,
Human molecular genetics.
[98]
N. Laing,et al.
Report of the 70th ENMC International Workshop: Nemaline myopathy, 11–13 June 1999, Naarden, The Netherlands
,
2000,
Neuromuscular Disorders.
[99]
T. McCarthy,et al.
Ryanodine receptor mutations in malignant hyperthermia and central core disease
,
2000,
Human mutation.
[100]
D. Ellison,et al.
A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy
,
2000,
Neuromuscular Disorders.
[101]
K. Pelin,et al.
Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy
,
1999,
Nature Genetics.
[102]
Nigel,et al.
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.
,
1999,
Proceedings of the National Academy of Sciences of the United States of America.
[103]
D. Lev,et al.
Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother
,
1999,
Human Genetics.
[104]
Wei Zhao,et al.
Medical complications in long-term survivors with X-linked myotubular myopathy.
,
1999,
The Journal of pediatrics.
[105]
F. Mastaglia,et al.
Autosomal dominant distal myopathy: linkage to chromosome 14.
,
1995,
American journal of human genetics.
[106]
M. Phillips,et al.
A mutation in the human ryanodine receptor gene associated with central core disease
,
1993,
Nature Genetics.
[107]
C. Doriguzzi,et al.
Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia
,
1993,
Nature Genetics.
[108]
Marinos C. Dalakas,et al.
Muscle biopsy — a practical approach
,
1986,
The Ulster Medical Journal.
[109]
A. Fidziańska,et al.
“Cap disease”
,
1981,
Neurology.
[110]
A. Engel,et al.
Multicore disease. A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibers.
,
1971,
Mayo Clinic proceedings.
[111]
C. Pearson,et al.
Familial myopathy with probable lysis of myofibrils in type I fibers
,
1971,
Neurology.
[112]
V. Dubowitz,et al.
Oxidative enzymes and phosphorylase in central-core disease of muscle.
,
1960,
Lancet.
[113]
F. Muntoni,et al.
Core myopathies.
,
2011,
Seminars in Pediatric Neurology.
[114]
H. Jungbluth.
Orphanet Journal of Rare Diseases BioMed Central Review Multi-minicore Disease
,
2007
.
[115]
P. Dormitzer,et al.
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2.
,
2007,
American journal of human genetics.
[116]
A. Beggs,et al.
Mutations in dynamin 2 cause dominant centronuclear myopathy.
,
2005,
Nature genetics.
[117]
C. Wallgren‐Pettersson.
Congenital myopathies.
,
2005,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
[118]
M. Ridanpää,et al.
Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy.
,
2002,
Neuromuscular disorders : NMD.
[119]
N. Laing,et al.
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1.
,
1995,
Nature genetics.
[120]
E. Haan,et al.
A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
,
1995,
Nature Genetics.
[121]
E. Haan,et al.
Erratum: A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1 (Nature Genetics (1995) 9 (75-79))
,
1995
.
[122]
N. Gonatas,et al.
Myotubular myopathy. Persistence of fetal muscle in an adolescent boy.
,
1966,
Archives of neurology.