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Quoted phrase not found in phrase index: "Congenital Myasthenic Syndrome, Recessive"
Page 1
A Dpagt1 Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice.
Hyde LF, Kong Y, Zhao L, Rao SR, Wang J, Stone L, Njaa A, Collin GB, Krebs MP, Chang B, Fliesler SJ, Nishina PM, Naggert JK. Hyde LF, et al. Int J Mol Sci. 2022 Oct 9;23(19):12005. doi: 10.3390/ijms231912005. Int J Mol Sci. 2022. PMID: 36233305 Free PMC article.
Congenital disorders of glycosylation (CDG) are a heterogenous group of primarily autosomal recessive mendelian diseases caused by disruptions in the synthesis of lipid-linked oligosaccharides and their transfer to proteins. ...These changes were associated with the …
Congenital disorders of glycosylation (CDG) are a heterogenous group of primarily autosomal recessive mendelian diseases cause …
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Bauché S, O'Regan S, Azuma Y, Laffargue F, McMacken G, Sternberg D, Brochier G, Buon C, Bouzidi N, Topf A, Lacène E, Remerand G, Beaufrere AM, Pebrel-Richard C, Thevenon J, El Chehadeh-Djebbar S, Faivre L, Duffourd Y, Ricci F, Mongini T, Fiorillo C, Astrea G, Burloiu CM, Butoianu N, Sandu C, Servais L, Bonne G, Nelson I, Desguerre I, Nougues MC, Bœuf B, Romero N, Laporte J, Boland A, Lechner D, Deleuze JF, Fontaine B, Strochlic L, Lochmuller H, Eymard B, Mayer M, Nicole S. Bauché S, et al. Am J Hum Genet. 2016 Sep 1;99(3):753-761. doi: 10.1016/j.ajhg.2016.06.033. Epub 2016 Aug 25. Am J Hum Genet. 2016. PMID: 27569547 Free PMC article.
Inherited defects of peripheral neurotransmission result in congenital myasthenic syndromes (CMSs), a clinically and genetically heterogeneous group of rare diseases with fluctuating fatigable muscle weakness as the clinical hallmark. ...At the human NMJ, a d …
Inherited defects of peripheral neurotransmission result in congenital myasthenic syndromes (CMSs), a clinically and ge …
Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family.
Matlik HN, Milhem RM, Saadeldin IY, Al-Jaibeji HS, Al-Gazali L, Ali BR. Matlik HN, et al. Pediatr Neurol. 2014 Jul;51(1):165-9. doi: 10.1016/j.pediatrneurol.2014.03.012. Epub 2014 Mar 22. Pediatr Neurol. 2014. PMID: 24938146
BACKGROUND: Congenital myasthenic syndromes with end-plate acetylcholinesterase deficiency are rare autosomal recessive disorders characterized by onset of the disease in early childhood, general weakness exacerbated by exertion, ophthalmoplegia, and r …
BACKGROUND: Congenital myasthenic syndromes with end-plate acetylcholinesterase deficiency are rare autosomal recess …
A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.
Habbout K, Poulin H, Rivier F, Giuliano S, Sternberg D, Fontaine B, Eymard B, Morales RJ, Echenne B, King L, Hanna MG, Männikkö R, Chahine M, Nicole S, Bendahhou S. Habbout K, et al. Neurology. 2016 Jan 12;86(2):161-9. doi: 10.1212/WNL.0000000000002264. Epub 2015 Dec 11. Neurology. 2016. PMID: 26659129 Free PMC article.
RESULTS: The proband had fatigable muscle weakness characteristic of congenital myasthenic syndrome with acute and reversible attacks of most severe muscle weakness as observed in periodic paralysis. ...CONCLUSION: We identified a novel loss-of-functio …
RESULTS: The proband had fatigable muscle weakness characteristic of congenital myasthenic syndrome with acute and reve …
Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature.
El Kadiri Y, Ratbi I, Sefiani A, Lyahyai J. El Kadiri Y, et al. BMC Neurol. 2022 Aug 5;22(1):292. doi: 10.1186/s12883-022-02822-y. BMC Neurol. 2022. PMID: 35932018 Free PMC article. Review.
BACKGROUND: Congenital myasthenic syndromes (CMSs) are rare genetic diseases due to abnormalities of the neuromuscular junction leading to permanent or transient muscle fatigability and weakness. ...In silico analysis of protein-protein interaction network by …
BACKGROUND: Congenital myasthenic syndromes (CMSs) are rare genetic diseases due to abnormalities of the neuromuscular …
A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.
Polavarapu K, Mathur A, Joshi A, Nashi S, Preethish-Kumar V, Bardhan M, Sharma P, Parveen S, Seth M, Vengalil S, Chawla T, Shingavi L, Shamim U, Nayak S, Vivekanand A, Töpf A, Roos A, Horvath R, Lochmüller H, Nandeesh B, Arunachal G, Nalini A, Faruq M. Polavarapu K, et al. Neurogenetics. 2021 Oct;22(4):271-285. doi: 10.1007/s10048-021-00658-1. Epub 2021 Aug 1. Neurogenetics. 2021. PMID: 34333724
Twelve patients from seven unrelated South Indian families with a limb-girdle muscular dystrophy-congenital myasthenic syndrome (LGMD/CMS) phenotype and recessive inheritance underwent deep clinical phenotyping, electrophysiological evaluation, muscle …
Twelve patients from seven unrelated South Indian families with a limb-girdle muscular dystrophy-congenital myasthenic synd …
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.
Salpietro V, Lin W, Delle Vedove A, Storbeck M, Liu Y, Efthymiou S, Manole A, Wiethoff S, Ye Q, Saggar A, McElreavey K, Krishnakumar SS; SYNAPS Study Group; Pitt M, Bello OD, Rothman JE, Basel-Vanagaite L, Hubshman MW, Aharoni S, Manzur AY, Wirth B, Houlden H. Salpietro V, et al. Ann Neurol. 2017 Apr;81(4):597-603. doi: 10.1002/ana.24905. Epub 2017 Mar 29. Ann Neurol. 2017. PMID: 28253535 Free PMC article.
We report 2 families with undiagnosed recessive presynaptic congenital myasthenic syndrome (CMS). Whole exome or genome sequencing identified segregating homozygous variants in VAMP1: c.51_64delAGGTGGGGGTCCCC in a Kuwaiti family and c.146G>C in an I …
We report 2 families with undiagnosed recessive presynaptic congenital myasthenic syndrome (CMS). Whole exome or …
Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase.
Schmidt C, Abicht A, Krampfl K, Voss W, Stucka R, Mildner G, Petrova S, Schara U, Mortier W, Bufler J, Huebner A, Lochmüller H. Schmidt C, et al. Neuromuscul Disord. 2003 Mar;13(3):245-51. doi: 10.1016/s0960-8966(02)00273-0. Neuromuscul Disord. 2003. PMID: 12609506
Congenital myasthenic syndromes are caused by different genetic defects affecting proteins expressed at the neuromuscular junction. Recently, the first molecular genetic defect resulting in a presynaptic congenital myasthenic syndrome has …
Congenital myasthenic syndromes are caused by different genetic defects affecting proteins expressed at the neuromuscul …
Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine.
Winczewska-Wiktor A, Hirschfeld AS, Badura-Stronka M, Wojsyk-Banaszak I, Sobkowiak P, Bartkowska-Śniatkowska A, Babak V, Steinborn B. Winczewska-Wiktor A, et al. Int J Environ Res Public Health. 2022 Jan 11;19(2):775. doi: 10.3390/ijerph19020775. Int J Environ Res Public Health. 2022. PMID: 35055596 Free PMC article.
NALCN mutations lead to complex neurodevelopmental syndromes, including infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) and congenital contractures of limbs and face, hypotonia, and developmental delay (CLIFAHDD), which are rece …
NALCN mutations lead to complex neurodevelopmental syndromes, including infantile hypotonia with psychomotor retardation and characte …
Pathogenicity of a Human Laminin beta2 Mutation Revealed in Models of Alport Syndrome.
Funk SD, Bayer RH, Malone AF, McKee KK, Yurchenco PD, Miner JH. Funk SD, et al. J Am Soc Nephrol. 2018 Mar;29(3):949-960. doi: 10.1681/ASN.2017090997. Epub 2017 Dec 20. J Am Soc Nephrol. 2018. PMID: 29263159 Free PMC article.
Pierson syndrome is a congenital nephrotic syndrome with eye and neurologic defects caused by mutations in laminin beta2 (LAMB2), a major component of the glomerular basement membrane (GBM). ...However, expression of LAMB2-S83R significantly increased the rat …
Pierson syndrome is a congenital nephrotic syndrome with eye and neurologic defects caused by mutations in laminin beta …
24 results