Literature DB >> 28102454

Muscle MRI in pediatrics: clinical, pathological and genetic correlation.

Claudia P Cejas1, Maria M Serra2, David F Gonzalez Galvez2, Eliana A Cavassa3, Ana L Taratuto4, Gabriel A Vazquez3, Mario E L Massaro3, Angeles V Schteinschneider3.   

Abstract

Pediatric myopathies comprise a very heterogeneous group of disorders that may develop at different ages and affect different muscle groups. Its diagnosis is sometimes difficult and must be confirmed by muscle biopsy and/or genetic analysis. In recent years, muscle involvement patterns observed on MRI have become a valuable tool, aiding clinical diagnosis and enriching pathological and genetic assessments. We selected eight myopathy cases from our institutional database in which the pattern of muscle involvement observed on MRI was almost pathognomonic and could therefore contribute to establishing diagnosis. Muscle biopsy, genetic diagnosis or both confirmed all cases.

Entities:  

Keywords:  Children; Congenital myopathies; Magnetic resonance imaging; Muscular dystrophy; Myopathy; Pediatric myopathy

Mesh:

Year:  2017        PMID: 28102454     DOI: 10.1007/s00247-016-3777-6

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  38 in total

1.  Muscle MRI in FHL1-linked reducing body myopathy.

Authors:  G Astrea; J Schessl; E Clement; M Tosetti; E Mercuri; M Rutherford; G Cioni; C G Bönnemann; F Muntoni; R Battini
Journal:  Neuromuscul Disord       Date:  2009-07-17       Impact factor: 4.296

Review 2.  Merosin/laminin-2 and muscular dystrophy.

Authors:  U M Wewer; E Engvall
Journal:  Neuromuscul Disord       Date:  1996-12       Impact factor: 4.296

3.  TREAT-NMD workshop: pattern recognition in genetic muscle diseases using muscle MRI: 25-26 February 2011, Rome, Italy.

Authors:  Volker Straub; Pierre G Carlier; Eugenio Mercuri
Journal:  Neuromuscul Disord       Date:  2012-10-01       Impact factor: 4.296

4.  Common membrane trafficking defects of disease-associated dynamin 2 mutations.

Authors:  Ya-Wen Liu; Vasyl Lukiyanchuk; Sandra L Schmid
Journal:  Traffic       Date:  2011-08-05       Impact factor: 6.215

5.  Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations.

Authors:  Heinz Jungbluth; Mark R Davis; Clemens Müller; Serena Counsell; Joanna Allsop; Arijit Chattopadhyay; Sonia Messina; Eugenio Mercuri; Nigel G Laing; Caroline A Sewry; Graeme Bydder; Francesco Muntoni
Journal:  Neuromuscul Disord       Date:  2004-12       Impact factor: 4.296

Review 6.  Duchenne and Becker muscular dystrophies.

Authors:  Kevin M Flanigan
Journal:  Neurol Clin       Date:  2014-08       Impact factor: 3.806

Review 7.  [Muscular magnetic resonance imaging for evaluation of myopathies in children].

Authors:  S A Peters; C Köhler; U Schara; J Hohendahl; M Vorgerd; V Nicolas; C M Heyer
Journal:  Klin Padiatr       Date:  2007-12-21       Impact factor: 1.349

8.  Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype.

Authors:  E Mercuri; C Cini; A Pichiecchio; J Allsop; S Counsell; Z Zolkipli; S Messina; M Kinali; S C Brown; C Jimenez; M Brockington; Y Yuva; C A Sewry; F Muntoni
Journal:  Neuromuscul Disord       Date:  2003-09       Impact factor: 4.296

Review 9.  Centronuclear (myotubular) myopathy.

Authors:  Heinz Jungbluth; Carina Wallgren-Pettersson; Jocelyn Laporte
Journal:  Orphanet J Rare Dis       Date:  2008-09-25       Impact factor: 4.123

Review 10.  Central core disease.

Authors:  Heinz Jungbluth
Journal:  Orphanet J Rare Dis       Date:  2007-05-15       Impact factor: 4.123

View more
  2 in total

Review 1.  Advanced MRI Techniques for Muscle Imaging.

Authors:  Vivek Kalia; Doris G Leung; Darryl B Sneag; Filippo Del Grande; John A Carrino
Journal:  Semin Musculoskelet Radiol       Date:  2017-08-03       Impact factor: 1.777

2.  Muscle MRI findings in a one-year-old girl with merosin-deficient congenital muscular dystrophy type 1A due to LAMA2 mutation: A case report.

Authors:  Yingyin Liang; Guidian Li; Songlin Chen; Rongxing He; Xiangxue Zhou; Yingming Chen; Xue Xu; Ronglan Zhu; Cheng Zhang
Journal:  Biomed Rep       Date:  2017-06-29
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.