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Article

FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1.

Yonsei medical journal - 1 Mar 2018

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

Abstract excerpt

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 woman with both contracted D4Z4 repeat units and a FAT1 mutation. Shoulder girdle muscle weakness developed at the age...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29436205
DOI: 10.3349/ymj.2018.59.2.337
PMCID: PMC5823839

Genes

FAT1

Provenance

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