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Organisation | Services involved in EBB project | Bank activity

.:: Organisation

Name: University of Ljubljana, Medical Faculty

Address: Vrazov TRG 2, 1000 Ljubljana, Slovenia

Tel: +386 1 543 7702

Go to University of Ljubljana web site
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.:: Services involved in EuroBioBank project

• Institute of Anatomy, Neuromuscular laboratory

Assistant Professor Mija Meznaric-Petrusa, MD, marija.meznaric-petrusa@mf.uni-lj.si

Korytkova 2, 1000 Ljubljana, Slovenia

Tel: +386 1 543 7307 / Fax: +386 1 543 7301

At the neuromuscular laboratory muscle biopsies predominantly from patients with inherited muscle diseases are processed for lightmicroscopic examination including immunohistochemistry, ultrastractural analysis and Western blot. After the diagnostic evaluation all muscle biopsies are kept stored in liquid nitrogen to be available for the examination with new techniques, consultations with other centres and research. This banking activity was started in 1993. About 35-45 new skeletal muscle biopsies are collected each year. Most biopsies in adults are obtained by forceps. In children open biopsies are performed. Biopsies are obtained after written informed consent of the patients or the parents. In addition autopsy material, including some foetal autopsy material, of neuromuscular diseased patients is stored. Since the inherited neuromuscular diseases are seen in one neuromuscular unit our collection is considered national.

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.:: Bank activity

Biological material: human tissue

Foetal tissue: rare

Number of available human samples: about 400

including control samples: yes

Organs: skeletal muscle, chorion villi

Main available pathologies: neuromuscular diseases

Duchenne muscular dystrophy
Becker muscular dystrophy
FSH muscular dystrophy
Sarcoglycan deficiency
Dysferlin deficiency
Calpain deficiency
LGMD unclassified
Myotonic dystrophy
Congenital myopathies
Mitochondrial disorders
Inflammatory myopathies
Spinal muscular atrophy
Type II fibre atrophy
Myopathic
Neurogenic

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