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Asymptomatic elevation of serum creatine kinase leading to the diagnosis of 4q35 facioscapulohumeral muscular dystrophy

โœ Scribed by Vasiliki Zouvelou; Panagiota Manta; Nikolaos Kalfakis; Ioannis Evdokimidis; Demetris Vassilopoulos


Book ID
116674953
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
105 KB
Volume
16
Category
Article
ISSN
0967-5868

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Facioscapulohumeral muscular dystrophy (FSHD) is a relatively common autosomal dominant neuromuscular disorder. The gene for FSHD has recently been assigned to chromosome 4q35. Although abnormal mitochondrial and biochemical changes have been observed in FSHD, the molecular defect is unknown. In add