Seminars in Pediatric Neurology
Volume 18, Issue 4 , Pages 216-220 , December 2011

Clinical Approach to the Diagnosis of Congenital Myopathies

  • Kathryn N. North, MD

      Affiliations

    • Corresponding Author InformationAddress reprint requests to Kathryn N. North, MD, Clinical School, Level 3, Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Sydney, Australia

References 

  1. Sewry CA . Pathological defects in congenital myopathies . J Muscle Res Cell Motil . 2008;29:231–238
  2. North KN . What's new in congenital myopathies? . Neuromuscul Disord . 2008;18:433–442
  3. Ryan MM , Schnell C , Strickland CD , et al.  Nemaline myopathy: A clinical study of 143 cases . Ann Neurol . 2001;50:312–320
  4. Ryan MM , Ilkovski B , Strickland CD , et al.  Clinical course correlates poorly with muscle pathology in nemaline myopathy . Neurology . 2003;60:665–673
  5. Romero NB . Centronuclear myopathies: A widening concept . Neuromuscul Disord . 2010;20:223–228
  6. Clarke NF , Kolski H , Dye DE , et al.  Mutations in TPM3 are a common cause of congenital fiber type disproportion . Ann Neurol . 2008;63: 329-327
  7. Fischer D , Herasse M , Ferreiro A , et al.  Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene . Neurology . 2006;67:2217–2220
  8. Dubowitz V , Sewry CA . Muscle Biopsy: A Practical Approach . 3rd ed.. Saunders Elservier; 2007; http://www.amazon.com/Muscle-Biopsy-Practical-Approach-Consult/dp/1416025936/ref=sr_1_1?s=books&ie=UTF8&qid=1321789409&sr=1-1
  9. Nowak KJ , Wattanasirichaigoon D , Goebel HH , et al.  Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy . Nat Genet . 1999;23:208–212
  10. North KN , Laing NG . Skeletal muscle alpha-actin disease . Adv Exp Med Biol . 2008;642:15–27
  11. Romero NB , Monnier N , Viollet L , et al.  Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia . Brain . 2003;126:2341–2349
  12. Monnier N , Marty I , Faure J , et al.  Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores . Hum Mutat . 2008;29:670–678
  13. Bitoun M , Bevilacqua JA , Prudhon B , et al.  Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset . Ann Neurol . 2007;62:666–670
  14. Bitoun M , Maugenre S , Jeannet PY , et al.  Mutations in dynamin 2 cause dominant centronuclear myopathy . Nat Genet . 2005;37:1207–1209

PII: S1071-9091(11)00087-8

doi: 10.1016/j.spen.2011.10.002

Seminars in Pediatric Neurology
Volume 18, Issue 4 , Pages 216-220 , December 2011

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