Diagnostic muscle biopsies in the era of genetics: the added value of myopathology in a selection of limb-girdle muscular dystrophy patients
Author:
Funder
IFMSA
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s13760-020-01559-0.pdf
Reference48 articles.
1. Murphy AP, Straub V (2015) The classification, natural history and treatment of the limb-girdle muscular dystrophies. J Neuromuscul Disord 2:S7–S19. https://doi.org/10.3233/JND-150105
2. Straub V, Murphy A, Udd B, LGMD workshop study group (2018) 229th ENMC international workshop: Limb girdle muscular dystrophies—Nomenclature and reformed classification. Naarden, the Netherlands, 17–19 March 2017. Neuromuscul Disord 28:702–710. https://doi.org/10.1016/j.nmd.2018.05.007
3. Walter MC, Petersen JA, Stucka R, Fischer D, Schroeder R, Vorgerd M, Schroers A, Schreiber H, Hanemann CO, Knirsch U, Rosenbohm A, Huebner A, Barisic N, Horvath R, Komoly S, Reilich P, Mueller-Felber W, Pongratz D, Mueller JS, Auerswald EA, Lochmueller H (2005) FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients. J Med Genet 41:e50. https://doi.org/10.1136/jmg.2003.013953
4. Schwartz M, Hertz JM, Sveen ML, Vissing J (2005) LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype. Neurology 64:1635–1637. https://doi.org/10.1212/01.WNL.0000157654.59374.E5
5. Mudau MM, Essop F, Krause A (2017) A novel FKRP-related muscular dystrophy founder mutation in South-African Afrikaner patients with a phenotype suggestive of a dystrophinopathy. S Afr Med J 107:80–82. https://doi.org/10.7196/SAMJ.2017.v107i1.10907
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