Muscle MRI patterns for limb girdle muscle dystrophies: systematic review

[1]  E. Zanoteli,et al.  Whole‐Body MRI in Limb Girdle Muscular Dystrophy Type R1/2A: Correlation With Clinical Scores , 2022, Muscle & nerve.

[2]  A. Blamire,et al.  Three‐year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy , 2022, Journal of cachexia, sarcopenia and muscle.

[3]  P. Zammit,et al.  Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies , 2022, European journal of translational myology.

[4]  J. Vissing,et al.  Axial muscle involvement in patients with limb girdle muscular dystrophy type R9 , 2022, Muscle & nerve.

[5]  M. Roberts,et al.  Limb girdle muscular dystrophy R12 (LGMD 2L, anoctaminopathy) mimicking idiopathic inflammatory myopathy: key points to prevent misdiagnosis. , 2021, Rheumatology.

[6]  J. Vissing,et al.  Muscle involvement assessed by quantitative magnetic resonance imaging in patients with anoctamin 5 deficiency , 2021, European journal of neurology.

[7]  C. Zimmer,et al.  Quantitative Muscle MRI in Patients with Neuromuscular Diseases—Association of Muscle Proton Density Fat Fraction with Semi-Quantitative Grading of Fatty Infiltration and Muscle Strength at the Thigh Region , 2021, Diagnostics.

[8]  M. Wicklund,et al.  Limb Girdle Muscular Dystrophies. , 2020, Neurologic clinics.

[9]  K. Claeys,et al.  POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern , 2020, Acta Neuropathologica.

[10]  Min-ting Lin,et al.  Clinical and genetic characterization of limb girdle muscular dystrophy R7 telethonin-related patients from three unrelated Chinese families , 2019, Neuromuscular Disorders.

[11]  K. Boycott,et al.  Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type. , 2020, European journal of medical genetics.

[12]  E. Mercuri,et al.  European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A) , 2019, Journal of Neurology.

[13]  N. Romero,et al.  HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes , 2019, Journal of Neurology.

[14]  K. Boycott,et al.  A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F. , 2019, European journal of medical genetics.

[15]  C. Angelini,et al.  A new family with transportinopathy: increased clinical heterogeneity , 2019, Therapeutic advances in neurological disorders.

[16]  J. Vilanova,et al.  Update on Whole-body MRI in Musculoskeletal Applications , 2019, Seminars in Musculoskeletal Radiology.

[17]  S. Chen,et al.  Lysosomal degradation of GMPPB is associated with limb‐girdle muscular dystrophy type 2T , 2019, Annals of clinical and translational neurology.

[18]  Xin-Ming Shen,et al.  Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain , 2019, Journal of Neurology.

[19]  L. Morandi,et al.  Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient , 2018, Acta neuropathologica communications.

[20]  P. Ninitas,et al.  Severe limb-girdle muscular dystrophy 2A in two young siblings from Guinea-Bissau associated with a novel null homozygous mutation in CAPN3 gene , 2018, Neuromuscular Disorders.

[21]  G. Comi,et al.  Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study , 2018, Orphanet Journal of Rare Diseases.

[22]  S. Luo,et al.  Fatty infiltration evaluation and selective pattern characterization of lower limbs in limb‐girdle muscular dystrophy type 2A by muscle magnetic resonance imaging , 2018, Muscle & nerve.

[23]  N. Bresolin,et al.  Multiparametric quantitative MRI assessment of thigh muscles in limb‐girdle muscular dystrophy 2A and 2B , 2018, Muscle & nerve.

[24]  V. Zhang,et al.  The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients , 2018, Orphanet Journal of Rare Diseases.

[25]  I. Illa,et al.  A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement , 2018, Neuromuscular Disorders.

[26]  D. MacArthur,et al.  Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population , 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

[27]  N. Bresolin,et al.  A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature , 2018, Neuromuscular Disorders.

[28]  Zhaoxia Wang,et al.  Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene , 2018, BioMed research international.

[29]  H. Otero,et al.  Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials , 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

[30]  I. Nelson,et al.  Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families , 2018, European journal of neurology.

[31]  Min-ting Lin,et al.  Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients , 2018, The International journal of neuroscience.

[32]  Hanns Lochmüller,et al.  Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation , 2017, Neuromuscular Disorders.

[33]  D. MacArthur,et al.  A ‘second truncation’ in TTN causes early onset recessive muscular dystrophy , 2017, Neuromuscular Disorders.

[34]  E. Bertini,et al.  MRI in sarcoglycanopathies: a large international cohort study , 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

[35]  B. Ertl-Wagner,et al.  Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient , 2017, Neuromuscular Disorders.

[36]  J. Holton,et al.  Calpainopathy with macrophage-rich, regional inflammatory infiltrates , 2017, Neuromuscular Disorders.

[37]  H. Lv,et al.  Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing , 2017, PLoS ONE.

[38]  M. Lek,et al.  A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy , 2016, Neuromuscular Disorders.

[39]  C. Angelini,et al.  Progress and challenges in diagnosis of dysferlinopathy , 2016, Muscle & nerve.

[40]  G. Pita,et al.  A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss , 2016, EMBO molecular medicine.

[41]  J. Bevilacqua,et al.  Broadening the imaging phenotype of dysferlinopathy at different disease stages , 2016, Muscle & nerve.

[42]  H. Lv,et al.  Heterogeneous characteristics of MRI changes of thigh muscles in patients with dysferlinopathy , 2016, Muscle & nerve.

[43]  F. Lecouvet.  Whole-Body MR Imaging: Musculoskeletal Applications. , 2016, Radiology.

[44]  Frank Klawonn,et al.  Diagnostic support for selected neuromuscular diseases using answer-pattern recognition and data mining techniques: a proof of concept multicenter prospective trial , 2016, BMC Medical Informatics and Decision Making.

[45]  D. MacArthur,et al.  Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. , 2015, JAMA neurology.

[46]  T. Nam,et al.  A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotype , 2015, Neuromuscular Disorders.

[47]  K. Bushby,et al.  Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease , 2015, Neuromuscular Disorders.

[48]  E. Leshinsky‐Silver,et al.  Adult onset limb-girdle muscular dystrophy — A recessive titinopathy masquerading as myositis , 2015, Journal of the Neurological Sciences.

[49]  B. Meyer,et al.  Clinical and genetic features of anoctaminopathy in Saudi Arabia , 2015, Neurosciences.

[50]  M. Maas,et al.  Combining MRI and muscle biopsy improves diagnostic accuracy in subacute‐onset idiopathic inflammatory myopathy , 2015, Muscle & nerve.

[51]  P. Shekelle,et al.  Preferred reporting items for systematic review and meta-analysis protocols (PRISMA-P) 2015 statement , 2015, Systematic Reviews.

[52]  M. Pane,et al.  Isolated semitendinosus involvement in the initial stages of limb-girdle muscular dystrophy 2L , 2014, Neuromuscular Disorders.

[53]  K. Bushby,et al.  Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy , 2014, Neuromuscular Disorders.

[54]  K. Thangaraj,et al.  Novel TCAP Mutation c.32C>A Causing Limb Girdle Muscular Dystrophy 2G , 2014, PloS one.

[55]  S. Frank,et al.  Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations , 2014, Neuromuscular Disorders.

[56]  A. Ferlini,et al.  A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation , 2013, Neuromuscular Disorders.

[57]  L. Køber,et al.  Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression , 2013, Journal of Neurology.

[58]  I. Férnandez-Cadenas,et al.  Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene. , 2013, Brain : a journal of neurology.

[59]  J. J. Padilla,et al.  Clinical phenotype, muscle MRI and muscle pathology of LGMD1F , 2013, Journal of Neurology.

[60]  I. Nonaka,et al.  DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions , 2013, Neuromuscular Disorders.

[61]  K. Gruis,et al.  Novel mutations in the anoctamin 5 gene (ANO5) associated with limb‐girdle muscular dystrophy 2L , 2013, Muscle & nerve.

[62]  K. Bushby,et al.  Muscle MRI findings in limb girdle muscular dystrophy type 2L , 2012, Neuromuscular Disorders.

[63]  Y. Kakitsubata,et al.  Skeletal muscle disease: patterns of MRI appearances. , 2012, The British journal of radiology.

[64]  B. Suh,et al.  Heterogeneous Characteristics of Korean Patients with Dysferlinopathy , 2012, Journal of Korean medical science.

[65]  A. Paetau,et al.  Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus , 2011, Neuromuscular Disorders.

[66]  B. Yin,et al.  Clinical and pathological features in 15 Chinese patients with calpainopathy , 2011, Muscle & nerve.

[67]  J. Cole,et al.  Calpainopathy presenting as foot drop in a 41 year old , 2010, Neuromuscular Disorders.

[68]  P. Vermersch,et al.  Morphologic imaging in muscular dystrophies and inflammatory myopathies , 2010, Skeletal Radiology.

[69]  R. Stramare,et al.  MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies , 2010, La radiologia medica.

[70]  P. Vermersch,et al.  Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients , 2009, Journal of Neurology, Neurosurgery & Psychiatry.

[71]  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.

[72]  H. Urbach,et al.  Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs , 2005, Journal of Neurology.

[73]  Francesco Muntoni,et al.  Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures , 2005, Neuromuscular Disorders.

[74]  A. Blamire,et al.  Correlative MR imaging and 31P-MR spectroscopy study in sarcoglycan deficient limb girdle muscular dystrophy , 1997, Neuromuscular Disorders.