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Updated: Jul 31, 2026

Standardized Measurement of Nasal Membrane Transepithelial Potential Difference (NPD)
Published on: September 13, 2018
Nail-patella syndrome associated with respiratory chain disorder
J Finsterer1, C Stöllberger, J Wanschitz
1Ludwig Boltzmann Institute for Research in Epilepsy and Neuromuscular Disorders, Krankenanstalt Rudolfstiftung, A-1180 Vienna, Austria. fij@2nr.nkr.magwien.gv.at
Abstract:
Nail-patella syndrome (NPS) has not been described to be associated with a respiratory chain disorder (RCD) before. In a 42-year-old man with the typical phenotype of an NPS, weakness and wasting of the shoulder girdle muscles, muscle cramps, fatigability, hyperhidrosis, chest pain and creatine kinase elevation were observed. Echocardiography revealed left ventricular hypertrabeculation. Needle electromyography was myopathic, lactate stress testing was abnormal, muscle biopsy showed typical features of an RCD and mtDNA analysis revealed the A3243G MELAS mutation. In conclusion, this case demonstrates that NPS may be randomly associated with RCD. NPS patients should undergo detailed cardiological and neurological investigations, in order not to overlook a double trouble partially mimicking NPS.
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