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Case 41 - Limb Girdle Muscular Dystrophy (LGMD) R1, Calpain-Related

from Myopathies

Published online by Cambridge University Press:  29 November 2024

Jessica E. Hoogendijk
Affiliation:
University Medical Center Utrecht
Marianne de Visser
Affiliation:
Amsterdam University Medical Center
Pieter A. van Doorn
Affiliation:
Erasmus MC, University Medical Center, Rotterdam
Erik H. Niks
Affiliation:
Leiden University Medical Center
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Summary

In his late twenties, a 30-year-old man reported difficulty with raising his arms and running, which had progressed over subsequent years. During his teens he had been a very good soccer player.

Type
Chapter
Information
Neuromuscular Disease
A Case-Based Approach
, pp. 187 - 190
Publisher: Cambridge University Press
Print publication year: 2024

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References

Suggested Reading

Barp, A, Laforet, P, Bello, L, Tasca, G, et al. European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A). J Neurol 2020;267(1):45-56. doi: 10.1007/s00415-019-09539-y. Epub 2019 Sep 25. PMID: 31555977.CrossRefGoogle ScholarPubMed
Johnson, NE, Statland, JM. The limb-girdle muscular dystrophies. Continuum (Minneap Minn) 2022;28(6):16981714. doi: 10.1212/CON.0000000000001178. PMID: 36537976.Google ScholarPubMed
Liewluck, T, Milone, M. Untangling the complexity of limb-girdle muscular dystrophies. Muscle Nerve 2018;58(2):167177. doi: 10.1002/mus.26077. Epub 2018 Feb 7. PMID: 29350766.CrossRefGoogle ScholarPubMed
Lostal, W, Urtizberea, JA, Richard, I ; Calpain 3 study group. 233rd ENMC International Workshop: clinical trial readiness for calpainopathies, Naarden, the Netherlands, 15-17 September 2017. Neuromuscul Disord 2018;28(6):540549. doi: 10.1016/j.nmd.2018.03.010. Epub 2018 Mar 28. PMID: 29655529.CrossRefGoogle ScholarPubMed
Spinazzi, M, Poupiot, J, Cassereau, J, et al. Late-onset camptocormia caused by a heterozygous in-frame CAPN3 deletion. Neuromuscul Disord 2021;31(5):450455. doi: 10.1016/j.nmd.2021.02.012. Epub 2021 Feb 14. PMID: 33741228.CrossRefGoogle ScholarPubMed
Straub, V, Murphy, A, Udd, B ; LGMD workshop study group.229th ENMC International Workshop: limb girdle muscular dystrophies – nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. Neuromuscul Disord 2018;28(8):702710. doi: 10.1016/j.nmd.2018.05.007. Epub 2018 May 24. PMID: 30055862.CrossRefGoogle ScholarPubMed

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