Caveolinopathies in Greece  

Oleh:

Papadopoulos, Constantinos ; Papadimas, George K. ; Kekou, Kyriaki ; Spengos, Konstantinos ; Svigou, Maria ; Kitsiou-Tzeli, Sofia ; Manta, Panagiota

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The Neurologist vol. 20 no. 01 (Jul. 2015), page 8-12.
Topik: Caveolin-3; Myoedema; HyperCKemia; Myopathy

Ketersediaan

Perpustakaan FK Nomor Panggil: N06.K Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

Lihat Detail Induk

Isi artikel

Introduction: Mutations in the CAV3 gene are usually inherited in an autosomal dominant manner and lead to distinct disorders including limb-girdle muscular dystrophy 1C, rippling muscle disease, and isolated creatine kinase elevation. Patients and Methods: The features of the first patients with caveolin-3 deficiency from Greece are presented. Patients’ phenotypes ranged from asymptomatic creatine kinase elevation to severe weakness of lower extremities. Clinical evaluation disclosed muscle hypertrophy in 2 patients, whereas percussion-induced muscle mounding was a consistent finding in all of them. Muscle histopathology was variable and unrelated with disease severity. The diagnosis was based on the immunohistochemical study of caveolin-3 expression and molecular analysis of the caveolin-3 gene. Conclusions: Clinical manifestations and histochemical findings in caveolinopathy patients may be mild or nonspecific or overlapping with features of other muscular dystrophies. Immunohistochemical study of caveolin-3 expression on muscle biopsy should be routinely performed when investigating isolated hyperCKemia or undetermined myopathy especially in the presence of percussion-induced muscle mounding.

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