Elderly Onset of Weakness in Facioscapulohumeral Muscular Dystrophy
Case Reports in Neurological Medicine, 2012 A 77-year-old male is presented. He had onset of proximal weakness 10 years earlier. His course was slowly progressive. Despite having phenotypic features of facioscapulohumeral muscular dystrophy (FSH), genetic testing for this was delayed because of ...
Dominic B. Fee
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Contractions of D4Z4 on 4qB Subtelomeres Do Not Cause Facioscapulohumeral Muscular Dystrophy [PDF]
, 2004 Richard J F L Lemmers +5 more
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Mechanism and Timing of Mitotic Rearrangements in the Subtelomeric D4Z4 Repeat Involved in Facioscapulohumeral Muscular Dystrophy [PDF]
, 2004 Richard J.L.F. Lemmers +6 more
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Concurrence of facioscapulohumeral muscular dystrophy and myasthenia gravis [PDF]
, 2004 Valeria Sansone +3 more
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Facioscapulohumeral Muscular Dystrophy: Clinical Medicine and Molecular Cell Biology. [PDF]
, 2005 Katherine D. Mathews
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Effects of training and albuterol on pain and fatigue in facioscapulohumeral muscular dystrophy [PDF]
, 2007 E.L. van der Kooi +6 more
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Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30. [PDF]
, 1999 J Med Genet. 1999 Aug;36(8):629-32. Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30. Munar-Qués M, Pedrosa JL, Coelho T, Gusmão L, Seruca R, Amorim A, Sequeiros J. Grupo de Estudio de la PAF, Palma
AMORIM, A. +6 more
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540. RNAi Targeting of FRG1: A Potential Therapy for Facioscapulohumeral Muscular Dystrophy (FSHD) [PDF]
, 2008 openalex +1 more source
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity [PDF]
, 2011 Sabrina Sacconi +8 more
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If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD) [PDF]
, 2011 James E. Hilbert +8 more
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