Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Jamie M. Eskuri"'
Autor:
Jamie M. Eskuri, Courtney R. Carlson, Steven D. McGaughey, Katherine D. Mathews, Carrie M. Stephan, M. Bridget Zimmerman
Objective:To describe the phenomenon of acute illness-associated weakness (AIAW) in patients with dystroglycanopathy (DG), determine the frequency of this phenomenon in DGs, and compare it to the frequency in Duchenne-Becker muscular dystrophy (DBMD)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62f0aca0723580d1b0d9862ad67bb6f7
https://europepmc.org/articles/PMC5719925/
https://europepmc.org/articles/PMC5719925/
Autor:
Thomas L. Winder, Jamie M. Eskuri, Jessie H. Conta, Kathleen Patterson, Stephanie E Wallace, Kevin P. Campbell, Steven A. Moore, Richard H. Haas, Tobias Willer, Sidney M. Gospe
Publikováno v:
Neuromuscular Disorders. 24:312-320
Mutations in POMT1 lead to a group of neuromuscular conditions ranging in severity from Walker-Warburg syndrome to limb girdle muscular dystrophy. We report two male siblings, ages 19 and 14, and an unrelated 6-year old female with early onset muscul
Mutations in the GARS gene cause Charcot-Marie-Tooth 2D and distal spinal muscular atrophy type V - allelic disorders characterized by predominantly distal upper extremity weakness and atrophy, typically beginning during the second decade of life. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6a72221106f2c387f93f8701facbf21
https://europepmc.org/articles/PMC3572939/
https://europepmc.org/articles/PMC3572939/