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Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs

  • Published:2005-02-23 Issue:5 Volume:252 Page:538-547
  • ISSN:0340-5354
  • Container-title:Journal of Neurology
  • language:en
  • Short-container-title:J Neurol

Author:

Fischer D.,Walter M. C.,Kesper K.,Petersen J. A.,Aurino S.,Nigro V.,Kubisch C.,Meindl T.,Lochmüller H.,Wilhelm K.,Urbach H.,Schröder R.

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Reference26 articles.

1. Bashir R, Britton S, Strachan T,Keers S, Vafiadaki E, Lako M, Richard I,Marchand S, Bourg N, Argov Z, Sadeh M, Mahjneh I,Marconi G, Passos–Bueno MR,Moreira ES, Zatz M, Beckmann JS, Bushby K (1998) A gene related to Caenorhabditis elegans spermatogenesis factor fer–1 is mutated in limbgirdle muscular dystrophy type 2B. Nat Genet 20:37–42

2. Bonnemann CG, Finkel RS (2002) Sarcolemmal proteins and the spectrum of limb–girdle muscular dystrophies. Semin Pediatr Neurol 9:81–99

3. Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting CP, Estournet B, Romero NB, Mercuri E, Voit T, Sewry CA, Guicheney P, Muntoni F (2001a) Mutations in the fukutin–related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet 69:1198–1209

4. Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA, Herrmann R, Anderson LV, Bashir R, Burgunder JM, Fallet S, Romero N, Fardeau M, Straub V, Storey G, Pollitt C, Richard I, Sewry CA, Bushby K, Voit T, Blake DJ, Muntoni F (2001b) Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet 10:2851–2859

5. Cupler EJ, Bohlega S, Hessler R, McLean D, Stigsby B, Ahmad J (1998) Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features. Neuromuscul Disord 8:321–326

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