- Facioscapulohumeral muscular dystrophy: report of two cases
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Choi CU, Kwon JU, Kwon H, Lee SH
- KMID: 1689199
- J Korean Orthop Assoc.
- 1991 Aug;26(4):1354-1358.
No abstract available. -
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- Facioscapulohumeral Muscular Dystrophy Confirmedby D4Z4 Analysis
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Lee SC, Ki CS, Lee SH, Im HK, Koh SH, Lee KY, Lee YJ
- KMID: 2185082
- J Korean Neurol Assoc.
- 2008 Aug;26(3):292-294.
No abstract available. -
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- Shoulder Motion after Scapulothoracic Arthrodesis of the Facioscapulohumeral Type of Progressive Muscular Dystrophy ( PMD )
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Lee YG, Park GC
- KMID: 2190048
- J Korean Orthop Assoc.
- 1997 Feb;32(1):126-132.
Many patients who have facioscapulohumeral muscular dystrophy eventually have instability of the scapula due to weakness of the muscles which stabilize the scapula. However, a subset of these patients have... -
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- Extensive inflammatory reaction in facioscapulohumeral muscular dystrophy
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Choi JH, Park YE, Shin JH, Lee CH, Kim DS
- KMID: 2387236
- Ann Clin Neurophysiol.
- 2017 Jul;19(2):141-144.
- doi: 10.14253/acn.2017.19.2.141
In facioscapulohumeral muscular dystrophy (FSHD), prominent inflammatory cellular infiltrates mimicking inflammatory myopathies are often observed in muscle biopsies. We report extensive inflammatory changes in a 16-year-old girl who was genetically... -
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- A Family of Facioscapulohumeral Muscular Dystrophy
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Choi YH, Hwang YK, Seo YI, Kang MS, Kim HJ, Kim NS, Suh CK, Chi JG
- KMID: 2065963
- J Korean Neurol Assoc.
- 1993 Mar;11(1):121-126.
Facioscapulohumeral muscular dystrophy (FSHD) is a genetically trarlsmitted benign muscular dystrophy which has autosomal dominant inheritance pattern. It starts anytime within the first 30 years of life, and usually involves... -
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- Bilateral Cochlear Implantation in Facioscapulohumeral Muscular Dystrophy Presenting Sensorineural Hearing Loss
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Kim JY, Chang MY, Kim CS, Kim YH
- KMID: 2377574
- Korean J Otorhinolaryngol-Head Neck Surg.
- 2017 Apr;60(4):187-190.
- doi: 10.3342/kjorl-hns.2016.16726
Facioscapulohumeral muscular dystrophy (FSHD) presents a muscular weakness in the face, shoulder girdle, and legs. In addition, bilateral, progressive, high-frequency sensorineural hearing loss (SNHL) can be expressed. A 3-year-old boy... -
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- Clinical and Genetic Analysis of Korean Patients with Facioscapulohumeral Muscular Dystrophy
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Ki CS, Lee ST, Kim KS, Kim JW, Hong YH, Sung JJ, Park KS, Lee KW
- KMID: 1107517
- J Korean Med Sci.
- 2008 Dec;23(6):959-963.
- doi: 10.3346/jkms.2008.23.6.959
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominantly inherited muscular disorder, which is characterized by weakness of facial, shoulder and hip girdle, humeral, and anterior distal leg muscles. The FSHD... -
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- Prenatal Diagnosis by Direct DNA Analysis in Facioscapulohumeral Muscular Dystrophy (FSHD) Families
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Choi SK
- KMID: 1538080
- J Genet Med.
- 1998 Mar;2(1):23-26.
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder which has been clinically shown to cause progressive weakness and result in atrophy of the facial muscles, shoulder girdle and... -
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- Early-Onset Facioscapulohumeral Muscular Dystrophy: Significance of Pelvic Extensor in Sagittal Spinal Imbalance
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Hwang C, Kang SJ, Lee SW, Ahn YJ, Kim YT, Lee DH, Lee CS
- KMID: 2186456
- J Korean Orthop Assoc.
- 2008 Jun;43(3):379-384.
- doi: 10.4055/jkoa.2008.43.3.379
An 11-year-old girl with early-onset facioscapulohumeral muscular dystrophy (FSHD) presented with progressive gait disturbance and lumbar hyperlordosis. The motor power of her pelvic extensor muscles was grade 3. Pelvic tilt... -
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- FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1
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Park HJ, Lee W, Kim SH, Lee JH, Shin HY, Kim SM, Park KD, Lee JH, Choi YC
- KMID: 2418800
- Yonsei Med J.
- 2018 Mar;59(2):337-340.
- doi: 10.3349/ymj.2018.59.2.337
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... -
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- Clinical Features and Genetic Analysis of Fascioscapulohumeral Muscular Dystrophy
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Hong JM, Kim SM, Sunwoo IN, Seo KD, Shim DS, Suh BC, Kim DS, Cho JH, Choi YC
- KMID: 2343353
- J Korean Neurol Assoc.
- 2009 Feb;27(1):42-48.
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is associated with contractions of the polymorphic D4Z4-repeat array in 4q35 and has the distinctive clinical presentation of an initial involvement of the facial, shoulder-girdle,... -
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