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Case 42 - Limb Girdle Muscular Dystrophy (LGMD) R9, FKRP-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

A 41-year-old man was referred because of persistent backache. When questioned, he recalled that he had had firm calves since childhood. Once, after strenuous exercise, he had experienced black coffee-coloured urine. At the time, he did not consult his GP.

Type
Chapter
Information
Neuromuscular Disease
A Case-Based Approach
, pp. 191 - 192
Publisher: Cambridge University Press
Print publication year: 2024

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References

Suggested Reading

Bönnemann, CG, Wang, CH, Quijano-Roy, S, et al.; Members of International Standard of Care Committee for Congenital Muscular Dystrophies.Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord 2014;24(4):289311. doi: 10.1016/j.nmd.2013.12.011. Epub 2014 Jan 9. PMID: 24581957; PMCID: PMC5258110.CrossRefGoogle Scholar
Ten Dam, L, Frankhuizen, WS, Linssen, WHJP, et al. Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients. Clin Genet 2019;96(2):126133. doi: 10.1111/cge.13544. Epub 2019 May 6. PMID: 30919934.CrossRefGoogle ScholarPubMed
Murphy, LB, Schreiber-Katz, O, Rafferty, K, et al. Global FKRP registry: observations in more than 300 patients with limb girdle muscular dystrophy R9. Ann Clin Transl Neurol 2020;7(5):757766. doi: 10.1002/acn3.51042. Epub 2020 Apr 28. PMID: 32342672; PMCID: PMC7261761.CrossRefGoogle ScholarPubMed
Ortiz-Cordero, C, Azzag, K, Perlingeiro, RCR. Fukutin-related protein: from pathology to treatments. Trends Cell Biol 2021;31(3):197210. doi: 10.1016/j.tcb.2020.11.003. Epub 2020 Dec 1. PMID: 33272829; PMCID: PMC8657196.CrossRefGoogle ScholarPubMed

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