Facioscapulohumeral muscular dystrophy

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Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy

Cardiology, 2005
Cardiac involvement (CI) in form of myocardial thickening in a patient with genetically confirmed facioscapulohumeral muscular dystrophy (FSHMD) has not been reported. The patient is a 50-year-old male with a tandem repeat size of 17 and 14 kb in the D4Z4 locus on chromosome 4q35. The clinical cardiologic investigation was normal.
Josef, Finsterer, Claudia, Stöllberger, Gerhard, Meng +2 more
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Mobius Syndrome and Facioscapulohumeral Muscular Dystrophy

Archives of Neurology, 1971
CONGENITAL facial diplegia, or Mobius syndrome, is usually considered to be a static disorder. Recently, however, there have been reports of myotonic dystrophy presenting with facial weakness in the newborn period. 1,2 ; some cases of Mobius syndrome may therefore be due to progressive disease.
P A, Hanson, L P, Rowland
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Genetic mapping of facioscapulohumeral muscular dystrophy

1993
Facioscapulohumeral muscular dystrophy (FSHD) is a well described neuromuscular disorder with an autosomal dominant inheritance pattern. The molecular defect underlying FSHD is unknown and lack of biochemical and physiological markers precluded a reliable presymptomatic diagnosis. Therefore, chromosomal localization of the FSHD gene by linkage analysis
C, Wijmenga +3 more
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Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7

EMBO Molecular Medicine, 2021
Peter Zammit, Christopher R S Banerji
exaly

Facioscapulohumeral Muscular Dystrophy