Key result
Nail-patella syndrome presents with a co-occurring MELAS mutation and left ventricular hypertrabeculation.
Why the study?
Nail-patella syndrome has not been previously described to be associated with a respiratory chain disorder.
Case Report (n=1)
This case report highlights the first described association between Nail-patella syndrome and a respiratory chain disorder, emphasizing the need for detailed cardiological and neurological investigations in NPS patients.
May warrant RCD screening in symptomatic NPS; leaves open a true association pending larger cohorts.
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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Finsterer et al. (2001) conducted a case report in Nail-patella syndrome and respiratory chain disorder (n=1). Co-occurrence of nail-patella syndrome and respiratory chain disorder was evaluated on Clinical and genetic diagnosis of respiratory chain disorder. A 42-year-old man with nail-patella syndrome was found to have a co-occurring respiratory chain disorder with the A3243G MELAS mutation and left ventricular hypertrabeculation.
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