The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients

[1]  M. Milone,et al.  Untangling the complexity of limb‐girdle muscular dystrophies , 2018, Muscle & nerve.

[2]  S. Khadilkar,et al.  Making sense of the clinical spectrum of limb girdle muscular dystrophies , 2018, Practical Neurology.

[3]  C. Angelini,et al.  Limb girdle muscular dystrophies: clinical-genetical diagnostic update and prospects for therapy , 2017 .

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

[5]  S. Khadilkar,et al.  Limb-girdle Muscular Dystrophies in India: A Review , 2017, Annals of Indian Academy of Neurology.

[6]  C. Bönnemann,et al.  219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April–1 May 2016 , 2017, Neuromuscular Disorders.

[7]  Clara Gaff,et al.  Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement , 2017, Genetics in Medicine.

[8]  N. Bresolin,et al.  The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis , 2017, Muscle & nerve.

[9]  Wei Zhang,et al.  Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy , 2016, Chinese medical journal.

[10]  J. Vissing Limb girdle muscular dystrophies: classification, clinical spectrum and emerging therapies. , 2016, Current opinion in neurology.

[11]  K. Flanigan,et al.  Recurrent Fat Embolic Strokes in a Patient With Duchenne Muscular Dystrophy With Long Bone Fractures and a Patent Foramen Ovale. , 2016, Pediatric neurology.

[12]  I. Nishino,et al.  Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders , 2016, Journal of Medical Genetics.

[13]  Hai-po Yang,et al.  FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies , 2016, Journal of Human Genetics.

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

[15]  Rachel Thompson,et al.  Limb-girdle muscular dystrophies — international collaborations for translational research , 2016, Nature Reviews Neurology.

[16]  Sung Im Cho,et al.  Clinical applications of next‐generation sequencing‐based gene panel in patients with muscular dystrophy: Korean experience , 2016, Clinical genetics.

[17]  V. Straub,et al.  Where do we stand in trial readiness for autosomal recessive limb girdle muscular dystrophies? , 2016, Neuromuscular Disorders.

[18]  Min Goo Lee,et al.  Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations , 2015, Yonsei medical journal.

[19]  Nan Li,et al.  Semi-quantitative assessment of lower limb MRI in dystrophinopathy , 2016 .

[20]  E. Hoffman,et al.  Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. , 2016, Journal of neuromuscular diseases.

[21]  I. Nelson,et al.  A new titinopathy , 2015, Neurology.

[22]  N. Jetté,et al.  A Systematic Review and Meta-analysis on the Epidemiology of the Muscular Dystrophies , 2015, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

[23]  Chih-Hung Chou,et al.  Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS , 2015, Neurology: Genetics.

[24]  Z. Argov,et al.  GNE Myopathy: Two Clusters with History and Several Founder Mutations , 2015, Journal of neuromuscular diseases.

[25]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[26]  A. Bastian,et al.  The Growing Family of Limb-Girdle Muscular Dystrophies: Old and Newly Identified Members , 2015, Romanian journal of internal medicine = Revue roumaine de medecine interne.

[27]  A. Verbeek,et al.  The Epidemiology of Neuromuscular Disorders: A Comprehensive Overview of the Literature. , 2015, Journal of neuromuscular diseases.

[28]  C. Béroud,et al.  Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene , 2014, Human mutation.

[29]  Nathalie Jette,et al.  A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy , 2014, Neuromuscular Disorders.

[30]  A. Mayhew,et al.  Quantitative Magnetic Resonance Imaging in Limb-Girdle Muscular Dystrophy 2I: A Multinational Cross-Sectional Study , 2014, PloS one.

[31]  Y. Hayashi,et al.  Limb-girdle muscular dystrophy type 2I is not rare in Taiwan , 2013, Neuromuscular Disorders.

[32]  Xin-mei Jiang,et al.  Limb-girdle muscular dystrophy subtypes: First-reported cohort from northeastern China , 2013, Neural regeneration research.

[33]  R. J. Haan,et al.  Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies , 2012 .

[34]  R. D. de Haan,et al.  Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies , 2012, Neurology.

[35]  N. Camp,et al.  Genetic distance and markers used in linkage mapping. , 2011, Methods in molecular biology.

[36]  M. Tabaku,et al.  The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation. , 2011, Genetic Counseling.

[37]  G. Meola,et al.  Muscle biopsy , 2011, Journal of Neurology.

[38]  C. Paradas,et al.  Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies , 2010, Neurology.

[39]  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.

[40]  B. Engelen,et al.  Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies , 2009, Journal of Neurology.

[41]  C. Béroud,et al.  Analysis of the DYSF mutational spectrum in a large cohort of patients , 2009, Human mutation.

[42]  K. Bushby,et al.  Dysferlin‐deficient muscular dystrophy features amyloidosis , 2008, Annals of neurology.

[43]  D. D. De Vivo,et al.  Delayed developmental language milestones in children with Duchenne's muscular dystrophy. , 2007, The Journal of pediatrics.

[44]  Francesco Muntoni,et al.  Muscle MRI in inherited neuromuscular disorders: Past, present, and future , 2007, Journal of magnetic resonance imaging : JMRI.

[45]  L. Kunkel,et al.  A novel mutation in two families with limb-girdle muscular dystrophy type 2C , 2006, Neurology.

[46]  M. Schwartz,et al.  High prevalence and phenotype–genotype correlations of limb girdle muscular dystrophy type 2I in Denmark , 2006, Annals of neurology.

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

[48]  S. Kapoor,et al.  Beta-sarcoglycanopathy , 2005, Indian journal of pediatrics.

[49]  Y. Itoyama,et al.  Dysferlin mutations in Japanese Miyoshi myopathy , 2003, Neurology.

[50]  I. Nonaka,et al.  Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy , 2001, Neuromuscular Disorders.

[51]  J. Beckmann,et al.  Clinical, pathological, and genetic features of limb‐girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families , 1998, Muscle & nerve.

[52]  E. Hoffman,et al.  Mutations in the sarcoglycan genes in patients with myopathy. , 1997, The New England journal of medicine.

[53]  R. Ike,et al.  Muscle biopsy , 1995, Current opinion in rheumatology.

[54]  L. Kunkel,et al.  Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin , 1995, Annals of neurology.