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INSTITUTE OF MOLECULAR GENETICS
AND GENETIC ENGINEERING
University of Belgrade

Serbian Neuromuscular Disease Network

An integrated platform for neuromuscular diseases in Serbia, the Serbian Neuromuscular Disease Network, NMD-SerbNet, was officially launched on 1 November 2014 during SERBORDISinn and the 2014 GoldenHelix Symposium "Genomics of Rare Diseases" held in Belgrade, Serbia. Adult and pediatric clinicians and basic science researchers from several institutions have joined forces to collaborate in the network including, Clinic for Neurology and Psychiatry for Children and Youth (Faculty of Medicine, University of Belgrade), Neurology Clinic (Clinical Center of Serbia, Faculty of Medicine, University of Belgrade), Clinical Hospital Center Zemun, Center for Human Molecular Genetics (Faculty of Biology, University of Belgrade), Institute of Human Genetics (Faculty of Medicine, University of Belgrade) and Institute for Molecular Genetics and Genetic Engineering (University of Belgrade).

The main goal of NMD-SerbNet is to improve diagnosis, research and therapy of neuromuscular disorders in Serbia through the synchronization of activities and systematic connection of detailed clinical and genetic information, biomaterial availability and research datasets related to Serbian patients. By increasing the number of neuromuscular diseases fully diagnosed in Serbia, engaging with other Serbian clinicians and researchers, and strengthening the links with patient organizations NMD-SerbNet will ultimately bring benefit to patients suffering from these disabling diseases.

More information related to the NMD-SerbNet, Serbian patient registries, available genetic tests and biomaterial, and ongoing research activities can be obtained by contacting Snezana Kojic at snezanakojic@imgge.bg.ac.rs.

Genetic tests for neuromuscular diseases currently available in Serbia

Disease Gene/Type of analysis Laboratory
Duchenne and Becker muscular dystrophy (DMD/BMD)  

DMD duplication and deletions

haplotype analysis		  CHMG¨/NC£
Myotonic dystrophy (DM1)  DMPK  CHMG/NC
Myotonic dystrophy (DM2)  CNBP (ZNF9)  CHMG
Limb girdle muscular dystrophy 2A (LGMD2A)  CAPN3  NC
Charcot-Marie-Tooth (CMT)  

PMP22 duplication

PMP22 sequencing

MPZ

GJB1

LITAF (SIMPLE)

EGR2

NDRG1 		 CHMG/NC
Congenital cataracts, facial dysmorphism and neuropathy (CCFDN)  CTDP1  CHMG
Neuromyotonia and axonal neuropathy (NMAN)  HINT1  CHMG
Hereditary Neuropathy with liability to Pressure Palsies (HNPP)  PMP22 deletion  CHMG/NC
Congenital myasthenic syndrome (CMS)  CHRNE  CHMG
Spinal muscular atrophy (SMA)  SMN1  CHMG
Amyotrophic Lateral Sclerosis 1 (ALS1)  

SOD1

FUS

TARDBP 		 CHMG
 

Frontotemporal Dementia and/or 

  C9orf72  CHMG/NC
Amyotrophic Lateral Sclerosis (FTDALS1)    
Kennedy’s disease (SBMA) AR CHMG/NC
Mitochondrial disorders mtDNA sequencing  NC
Myoclonic epilepsy with ragged-red fibers (MERRF) MT-TK CHMG

¨Center for Human Molecular Genetics, Faculty of Biology, University of Belgrade

£Neurology Clinic, Clinical Center of Serbia,  Faculty of Medicine, University of Belgrade

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