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Total 43 results found since Jan 2013.
Congenital myopathy due to pathogenic missense variant in the < em > MYBPC1 < /em > gene
Can J Neurol Sci. 2023 Aug 14:1-7. doi: 10.1017/cjn.2023.257. Online ahead of print.NO ABSTRACTPMID:37577974 | DOI:10.1017/cjn.2023.257
Source: The Canadian Journal of Neurological Sciences - August 14, 2023 Category: Neurology Authors: Vinaya Bhandari Raymond Kim Hanna Faghfoury Josh Silver Raymond H Chan Qiliang Ding Marci Lb Schwartz Vera Bril Source Type: research
Plasmapheresis for Treatment of Light Chain Amyloidosis Related Myopathy
Can J Neurol Sci. 2023 Apr 3:1-8. doi: 10.1017/cjn.2023.38. Online ahead of print.NO ABSTRACTPMID:37009747 | DOI:10.1017/cjn.2023.38
Source: The Canadian Journal of Neurological Sciences - April 3, 2023 Category: Neurology Authors: Tefani Perera Shahin Khayambashi Gordon Jewett Christopher Hahn Sylvia McCulloch Jeffrey T Joseph Sameer Chhibber Source Type: research
Macrocytosis in Mitochondrial DNA Deletion Syndromes
Acta Haematol. 2023 Feb 10. doi: 10.1159/000529311. Online ahead of print.ABSTRACTLarge single mtDNA (mitochondrial DNA) deletion syndrome is a rare inborn error of metabolism with variable heteroplasmy levels and clinical phenotype among affected individuals. Chronic progressive external ophthalmoplegia (CPEO) is the most common phenotype in adults with this form of mitochondrial disease [1-2]. The common CPEO clinical manifestations are ptosis and ophthalmoplegia. More variable phenotypic manifestations of CPEO (CPEO plus) include involvement of the peripheral nervous system and myopathy. Here, we describe a 62-year-old ...
Source: Acta Haematologica - February 12, 2023 Category: Hematology Authors: Farida Almarzooqi Hilary Vallance Michelle M Mezei Anna Lehman Gabriella Horvath Bojana Rakic Leslie Zypchen Andre Mattman Source Type: research
