Comment on: “Multiple acyl‑CoA dehydrogenase deficiency in elderly carriers”
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Neurology"
DOI: 10.1007/s00415-020-09752-0
Abstract: We read the paper “Multiple acyl‐CoA dehydrogenase defi‐ ciency [MADD] in elderly carriers” by Macchione et al. with great interest, where they describe two elderly individuals, each with only one heterozygous variant in ETFDH gene… read more here.
Keywords: coa dehydrogenase; variant; elderly carriers; acyl coa ... See more keywords
P 44 Brisk jerk reflexes in a CMT case – novel heterozygous variant c.785T>C; p.Leu262Pro in KIF5A explaining the mixed phenotype
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Neurophysiology"
DOI: 10.1016/j.clinph.2017.06.123
Abstract: Introduction Charcot-Marie-Tooth (CMT) disease is a progressively disabling syndrome phenotypically comprising distal muscle weakness and atrophy, foot deformities, sensory loss, and reduced or absent tendon reflexes. In spastic paraplegia (SPG), a hereditary disorder affecting the… read more here.
Keywords: phenotype; variant 785t; heterozygous variant; leu262pro kif5a ... See more keywords
Ferroportin Disease Caused by a Heterozygous Variant p.Cys326Phe in the SLC40A1 Gene and the Efficacy of Therapeutic Phlebotomy in Children.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000001301
Abstract: Therapeutic phlebotomy is recommended for treating hereditary hemochromatosis. However, the procedure and its efficacy for children remain unclear. We describe a young female patient with ferroportin disease, which was confirmed from excess iron deposition within… read more here.
Keywords: cys326phe slc40a1; phlebotomy; variant cys326phe; therapeutic phlebotomy ... See more keywords
A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3
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DOI: 10.1111/cge.13880
Abstract: Human multiple synostoses syndrome 3 is an autosomal dominant disorder caused by pathogenic variants in FGF9. Only two variants have been described in FGF9 in humans so far, and one in mice. Here we report… read more here.
Keywords: associated previously; novel heterozygous; variant; variant fgf9 ... See more keywords
Whole‐Exome Sequencing Revealing De Novo Heterozygous Variant OF KCNT1 in a Twin Discordant for Benign Epilepsy with Centrotemporal Spikes
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Paediatrics and Child Health"
DOI: 10.1111/jpc.13939
Abstract: 1 Broyles LN, Van Beneden C, Beall B et al. Population-based study of invasive disease due to beta-hemolytic streptococci of groups other than A and B. Clin. Infect. Dis. 2009; 48: 706–12. 2 MacMahon HE,… read more here.
Keywords: exome sequencing; revealing novo; sequencing revealing; heterozygous variant ... See more keywords
A Novel Heterozygous Variant in F2 Gene in a Chinese Patient With Coronary Thrombosis and Acute Myocardial Infarction Leads to Antithrombin Resistance
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2020.00184
Abstract: Thrombophilia refers to a group of conditions where the blood clots more easily than normal. These blood clots can cause problems such as deep vein thrombosis or pulmonary embolism. Most kinds of mutated coagulation factors… read more here.
Keywords: novel heterozygous; antithrombin resistance; novel mutation; heterozygous variant ... See more keywords
CNNM2 Heterozygous Variant Presenting as Hypomagnesemia and West Syndrome: Expanding the Spectrum of CNNM2 Gene-Related Epileptic Disorders
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/aian.aian_1130_20
Abstract: West syndrome (WS) is one of the few most common early infantile epileptic encephalopathy. Although structural etiology contributes to a significant proportion of WS in developing countries, at the same time monogenic variants also play… read more here.
Keywords: west syndrome; cnnm2 heterozygous; hypomagnesemia; gene ... See more keywords