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Atypical Phenotypes in Patients With Facioscapulohumeral Muscular Dystrophy 4q35 Deletion
Michael Krasnianski, MD;
Katharina Eger, MD;
Stephan Neudecker, MD;
Sibylle Jakubiczka, PhD;
Stephan Zierz, MD
Arch Neurol. 2003;60:1421-1425.
Background Facioscapulohumeral muscular dystrophy (FSHD) is associated with a deletion on chromosome 4q35. Recent studies have shown that this deletion is found in patients with other phenotypes in addition to those with the classic Landouzy-Dejerine FSHD phenotype.
Objective To examine patients with atypical phenotypes and an FSHD deletion on chromosome 4q35.
Design Clinical characterization and genotype-phenotype correlation.
Setting University hospital.
Patients Forty-one symptomatic subjects with deletions on chromosome 4q35.
Results We found 6 patients with atypical FSHD. Three (from a single family with FSHD) had additional symptoms of chronic progressive external ophthalmoplegia (4q35 EcoRI/BlnI fragment size, 20 kilobase [kb]), and 3 patients (1 with sporadic disease and 2 from a single family) had facial-sparing scapulohumeral dystrophy (4q35 EcoRI/BlnI fragment size, 30 and 34 kb, respectively).
Conclusions The clinical presentations in patients with FSHD-associated short fragments on chromosome 4q35 are not restricted to the classic FSHD form, but constitute a variety of clinical manifestations. There seems to be no clear correlation between the atypical subtype and the DNA fragment size due to the deletion.
From the Department of Neurology, Martin-Luther-University Halle-Wittenberg, Halle (Saale), Germany (Drs Krasnianski, Eger, Neudecker, and Zierz), and the Department of Human Genetics, Otto-von-Guericke-University, Magdeburg, Germany (Dr Jakubiczka).
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