FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1

Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by contraction of the D4Z4 repeat array. Recent studies revealed that the FAT1 expression is associated with disease activity of FSHD, and the FAT1 alterations result in myopathy with a FSHD-like phenotype. We describe a 59-year-old wom...

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Veröffentlicht in:Yonsei Med J
Hauptverfasser: Park, Hyung Jun, Lee, Wookjae, Kim, Se Hoon, Lee, Jung Hwan, Shin, Ha Young, Kim, Seung Min, Park, Kee Duk, Lee, Ji Hyun, Choi, Young-Chul
Format: Artigo
Sprache:Inglês
Veröffentlicht: Yonsei University College of Medicine 2018
Schlagworte:
Case Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5823839/
https://ncbi.nlm.nih.gov/pubmed/29436205
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3349/ymj.2018.59.2.337
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