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Large vessel vasculitis: a rare cause of isolated lower limb myopathy
Conclusions A thorough work up led to the diagnosis of polyarteritis nodosa as the cause of this patient’s isolated lower limb myopathy. No literature was found on this rare presentation of vasculitis.
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 8, 2017 Category: Neurosurgery Authors: El-Wahsh, S., Weerasinghe, D., McDougall, A. Tags: Abstracts Source Type: research

A unique case of dysferlinopathy with a large-segment duplication mutation who experienced rapid deterioration after small-dosage corticosteroid treatment
Dysferlinopathy is a type of myopathy with predominant deficiency of the dysferlin protein caused by mutations in the DYSF gene. The patients have defective skeletal muscle membrane repair. Dysferlinopathy is a spectrum of autosomal recessive neuromuscular disorders. To date, more than 450 different mutations have been reported in the DYSF gene, most being missense or nonsense mutations (http://www.dmd.nl). Because of the relatively acute onset and the remarkable inflammatory changes observable in muscle biopsies, dysferlinopathy has a big chance of being misdiagnosed as an inflammatory myopathy, and the patient consequent...
Source: Journal of the Neurological Sciences - February 25, 2017 Category: Neurology Authors: Li Di, Yuqing Guan, Xin-Ming Shen, Yuwei Da Tags: Letter to the Editor Source Type: research