Case report: Clinical and molecular characterization of two siblings affected by Brody myopathy

Autor: Daniele Velardo, Sara Antognozzi, Martina Rimoldi, Serena Pagliarani, Filippo Cogiamanian, Sergio Barbieri, Stefania Corti, Giacomo Pietro Comi, Dario Ronchi

Publikováno v: Frontiers in Neurology, Vol 14 (2023)

Exercise-induced muscle stiffness is the hallmark of Brody disease, an autosomal recessive myopathy due to biallelic pathogenic variants in ATP2A1, encoding the sarcoplasmic/endoplasmic reticulum Ca2+ ATPase SERCA1. About 40 patients have been report

Externí odkaz: https://doaj.org/article/bbad156d799b461da665d9731760c24d

Paradoxical pseudomyotonia in English Springer and Cocker Spaniels

Autor: Kimberley Stee, Mario Van Poucke, Luc Peelman, Mark Lowrie

Publikováno v: Journal of Veterinary Internal Medicine, Vol 34, Iss 1, Pp 253-257 (2020)

Abstract Background Paramyotonia congenita and Brody disease are well‐described conditions in humans, characterized by exercise‐induced myotonic‐like muscle stiffness. A syndrome similar to Brody disease has been reported in cattle. Reports of

Externí odkaz: https://doaj.org/article/d858092cf5b642ddb769d737576cebed

Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients

Autor: Joery P. Molenaar, Gaetano Vattemi, E. Kamsteeg, Benno Küsters, Damien Sternberg, Valeria Guglielmi, Amaia Martínez-Arroyo, K. Suetterlin, Corrie E. Erasmus, Barbara W. Brandom, Juergen Seeger, Susan Treves, Nicol C. Voermans, Thierry Kuntzer, Jérôme Franques, Mark E. Roberts, Roberto Fernández-Torrón, Frédéric Chevessier, Jamie I Verhoeven, Guillaume Bassez, Baziel G.M. van Engelen, Anthony Behin, Lucie Guyant-Maréchal, Richard J. Rodenburg, Savine Vicart, Jean Mathieu, Bruno Eymard, Armelle Magot, Michael G. Hanna, Yann Péréon, M.M.J. Snoeck

Publikováno v: Brain
Brain, 143, 2, pp. 452-466
Brain, 143, 452-466
Brain, vol. 143, no. 2, pp. 452-466

Brody disease is a rare myopathy characterized by exercise-induced muscle stiffness caused by mutations in the ATP2A1 gene. In the largest cohort of Brody patients to date, Molenaar et al. clarify the phenotype and diagnostic possibilities to help im

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8aae815c34577eaee53ba8ee9644b0c8
http://europepmc.org/articles/PMC7009512

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Paradoxical pseudomyotonia in English Springer and Cocker Spaniels

Autor: Mario Van Poucke, Mark Lowrie, Luc Peelman, Kimberley Stee

Publikováno v: Journal of Veterinary Internal Medicine
JOURNAL OF VETERINARY INTERNAL MEDICINE
Journal of Veterinary Internal Medicine, Vol 34, Iss 1, Pp 253-257 (2020)

Background Paramyotonia congenita and Brody disease are well‐described conditions in humans, characterized by exercise‐induced myotonic‐like muscle stiffness. A syndrome similar to Brody disease has been reported in cattle. Reports of a similar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ee7bbe6422e7555586d5779454c7ca2
http://europepmc.org/articles/PMC6979413