Yield of the PMP22 deletion analysis in patients with compression neuropathies.

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Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare neuromuscular disorder, mostly caused by PMP22 deletion.To determine a yield of the genetic analysis of PMP22 gene deletion in patients with compression neuropathies.We included 112 patients with clinical suspicion of HNPP diagnosis. Nerve conduction studies (NCS) were performed for motor and sensory nerves bilaterally. Number of the PMP22 gene copies was determined using a real-time polymerase chain reaction (RT-PCR).PMP22 deletion was found in 34 (30.3%) patients. Patients with genetically confirmed HNPP had 12 years earlier disease onset compared to other patients with compression neuropathies (p 


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