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Quoted phrase not found in phrase index: "Congenital myasthenic syndrome 7"
Page 1
Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations.
Shao S, Shi G, Bi FF, Huang K. Shao S, et al. Curr Neuropharmacol. 2023;21(7):1594-1605. doi: 10.2174/1570159X21666230126145652. Curr Neuropharmacol. 2023. PMID: 36703579 Free PMC article. Review.
BACKGROUND: Congenital myasthenic syndromes (CMS) refer to a series of inherited disorders caused by defects in various proteins. ...RESULTS: A total of 42 studies including 164 patients with CMS due to 72 different COLQ mutations were selected for evaluation …
BACKGROUND: Congenital myasthenic syndromes (CMS) refer to a series of inherited disorders caused by defects in various …
Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children.
Tsao CY. Tsao CY. Pediatr Neurol. 2016 Jan;54:85-7. doi: 10.1016/j.pediatrneurol.2015.09.019. Epub 2015 Nov 6. Pediatr Neurol. 2016. PMID: 26552645 Review.
They are characterized by fatigable weakness of the skeletal muscles with symptom onset from birth to early childhood. DOK7 (downstream of tyrosine kinase 7) congenital myasthenic syndrome was previously treated successfully with ephedrine and salbutam …
They are characterized by fatigable weakness of the skeletal muscles with symptom onset from birth to early childhood. DOK7 (downstream of t …
Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation.
Lorenzoni PJ, Scola RH, Kay CS, Filla L, Miranda AP, Pinheiro JM, Chaouch A, Lochmüller H, Werneck LC. Lorenzoni PJ, et al. J Neurol Sci. 2013 Aug 15;331(1-2):155-7. doi: 10.1016/j.jns.2013.05.017. Epub 2013 Jun 19. J Neurol Sci. 2013. PMID: 23790237
INTRODUCTION: Salbutamol is a selective B2-adrenergic agonist, which has previously been described to be associated with partial improvement of myasthenia gravis and congenital myasthenic syndromes (CMS). In this study, we analyzed the effect of salbutamol in …
INTRODUCTION: Salbutamol is a selective B2-adrenergic agonist, which has previously been described to be associated with partial improvement …
A cross-sectional nationwide survey of congenital and infantile nephrotic syndrome in Japan.
Hamasaki Y, Hamada R, Muramatsu M, Matsumoto S, Aya K, Ishikura K, Kaneko T, Iijima K. Hamasaki Y, et al. BMC Nephrol. 2020 Aug 24;21(1):363. doi: 10.1186/s12882-020-02010-5. BMC Nephrol. 2020. PMID: 32838745 Free PMC article.
BACKGROUND: Congenital nephrotic syndrome (CNS) and infantile nephrotic syndrome (INS) cause substantial morbidity and mortality. ...The most frequent disease type was non-Finnish (60.2%); 33 patients (39.8%) had Finnish type. Among those with non-Finnish-typ …
BACKGROUND: Congenital nephrotic syndrome (CNS) and infantile nephrotic syndrome (INS) cause substantial morbidity and …
Congenital myasthenia gravis.
Nizamani NB, Talpur KI, Memon MN. Nizamani NB, et al. J Coll Physicians Surg Pak. 2013 Jul;23(7):517-8. J Coll Physicians Surg Pak. 2013. PMID: 23823963
Congenital myasthenia gravis is caused by genetic mutations affecting neuromuscular transmission, characterized by muscle weakness usually starting in childhood. A two and a half years old male child presented with bilateral ptosis and hoarseness of voice. The symptoms pro …
Congenital myasthenia gravis is caused by genetic mutations affecting neuromuscular transmission, characterized by muscle weakness us …
Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.
McMacken G, Whittaker RG, Evangelista T, Abicht A, Dusl M, Lochmüller H. McMacken G, et al. J Neurol. 2018 Jan;265(1):194-203. doi: 10.1007/s00415-017-8689-3. Epub 2017 Nov 30. J Neurol. 2018. PMID: 29189923 Free PMC article.
BACKGROUND: Congenital myasthenic syndrome with episodic apnoea (CMS-EA) is a rare but potentially treatable cause of apparent life-threatening events in infancy. ...RESULTS: Lack of genetic diagnosis was more common in CMS-EA than in CMS without EA (56% n = …
BACKGROUND: Congenital myasthenic syndrome with episodic apnoea (CMS-EA) is a rare but potentially treatable cause of a …
Congenital myasthenic syndromes in childhood: diagnostic and management challenges.
Kinali M, Beeson D, Pitt MC, Jungbluth H, Simonds AK, Aloysius A, Cockerill H, Davis T, Palace J, Manzur AY, Jimenez-Mallebrera C, Sewry C, Muntoni F, Robb SA. Kinali M, et al. J Neuroimmunol. 2008 Sep 15;201-202:6-12. doi: 10.1016/j.jneuroim.2008.06.026. Epub 2008 Aug 15. J Neuroimmunol. 2008. PMID: 18707767
The Congenital Myasthenic Syndromes (CMS), a group of heterogeneous genetic disorders of neuromuscular transmission, are often misdiagnosed as congenital muscular dystrophy (CMD) or myopathies and present particular management problems. ...A repetitive …
The Congenital Myasthenic Syndromes (CMS), a group of heterogeneous genetic disorders of neuromuscular transmission, ar …
Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome.
Al-Muhaizea MA, AlQuait L, AlRasheed A, AlHarbi S, Albader AA, AlMass R, Albakheet A, Alhumaidan A, AlRasheed MM, Colak D, Kaya N. Al-Muhaizea MA, et al. Neuromuscul Disord. 2020 Jul;30(7):611-615. doi: 10.1016/j.nmd.2020.04.007. Epub 2020 May 15. Neuromuscul Disord. 2020. PMID: 32616363
Congenital myasthenic syndrome comprises several genetic disorders that impair neuromuscular junction transmission. ...VAMP1 mutations are associated with two main phenotypes: a) autosomal recessive congenital myasthenic syndrome and b) a …
Congenital myasthenic syndrome comprises several genetic disorders that impair neuromuscular junction transmission. ... …
Congenital myasthenic syndrome due to novel CHAT mutations in an ethnic kadazandusun family.
Tan JS, Ambang T, Ahmad-Annuar A, Rajahram GS, Wong KT, Goh KJ. Tan JS, et al. Muscle Nerve. 2016 May;53(5):822-6. doi: 10.1002/mus.25037. Epub 2016 Mar 23. Muscle Nerve. 2016. PMID: 26789281
INTRODUCTION: Choline acetyltransferase (CHAT) gene mutations cause a rare presynaptic congenital myasthenic syndrome due to impaired acetylcholine resynthesis. METHODS: We report 2 Kadazandusun brothers with novel heterozygous CHAT mutations. RESULTS: The si …
INTRODUCTION: Choline acetyltransferase (CHAT) gene mutations cause a rare presynaptic congenital myasthenic syndrome d …
Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.
Lashley D, Palace J, Jayawant S, Robb S, Beeson D. Lashley D, et al. Neurology. 2010 May 11;74(19):1517-23. doi: 10.1212/WNL.0b013e3181dd43bf. Neurology. 2010. PMID: 20458068 Free PMC article. Clinical Trial.
BACKGROUND: Mutations in the postsynaptic adaptor protein Dok-7 underlie congenital myasthenic syndrome (CMS) with a characteristic limb girdle pattern of muscle weakness. ...METHODS: This was an open prospective follow-up study to determine muscle str …
BACKGROUND: Mutations in the postsynaptic adaptor protein Dok-7 underlie congenital myasthenic syndrome (CMS) wi …
27 results