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Quoted phrase not found in phrase index: "Congenital myopathy 23"
Page 1
Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.
Gurgel-Giannetti J, Souza LS, Yamamoto GL, Belisario M, Lazar M, Campos W, Pavanello RCM, Zatz M, Reed U, Zanoteli E, Oliveira AB, Lehtokari VL, Casella EB, Machado-Costa MC, Wallgren-Pettersson C, Laing NG, Nigro V, Vainzof M. Gurgel-Giannetti J, et al. Int J Mol Sci. 2022 Oct 9;23(19):11995. doi: 10.3390/ijms231911995. Int J Mol Sci. 2022. PMID: 36233295 Free PMC article.
Nemaline myopathy (NM), a structural congenital myopathy, presents a significant clinical and genetic heterogeneity. ...Clinically, the "typical" form was the more frequent and caused by mutations in the different NM genes. Phenotypic heterogeneity was obs …
Nemaline myopathy (NM), a structural congenital myopathy, presents a significant clinical and genetic heterogeneity. .. …
Pregnancy and Delivery in Women With Congenital Myopathies.
Rudnik-Schöneborn S, Wallgren-Pettersson C. Rudnik-Schöneborn S, et al. Semin Pediatr Neurol. 2019 Apr;29:23-29. doi: 10.1016/j.spen.2019.01.006. Epub 2019 Jan 16. Semin Pediatr Neurol. 2019. PMID: 31060722 Review.
Reports on pregnancy and delivery issues in women with congenital myopathies are scarce. In this review, we summarize the medical literature along with updates of our own data. Included are patients with nemaline myopathy (n = 11), central core disease (n = 6 …
Reports on pregnancy and delivery issues in women with congenital myopathies are scarce. In this review, we summarize the medi …
Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature.
Moreno CAM, Abath Neto O, Donkervoort S, Hu Y, Reed UC, Oliveira ASB, Bönnemann C, Zanoteli E. Moreno CAM, et al. Pediatr Neurol. 2017 Oct;75:11-16. doi: 10.1016/j.pediatrneurol.2017.04.002. Epub 2017 Apr 7. Pediatr Neurol. 2017. PMID: 28780987 Review.
BACKGROUND: Nemaline myopathy is a rare congenital disease of skeletal muscle characterized by muscle weakness and hypotonia, as well as the diagnostic presence of nemaline rods in skeletal muscle fibers. ...PATIENTS AND METHODS: We present a series of ACTA1-related …
BACKGROUND: Nemaline myopathy is a rare congenital disease of skeletal muscle characterized by muscle weakness and hypotonia, …
Rhabdomyolysis-Induced AKI (RIAKI) Including the Role of COVID-19.
Młynarska E, Krzemińska J, Wronka M, Franczyk B, Rysz J. Młynarska E, et al. Int J Mol Sci. 2022 Jul 26;23(15):8215. doi: 10.3390/ijms23158215. Int J Mol Sci. 2022. PMID: 35897810 Free PMC article. Review.
Rhabdomyolysis is a compound disease that may be induced by many factors, both congenital and acquired. Statin therapy is considered one of the most common acquired factors. However, recent scientific reports suggest that serious complications such as rhabdomyolysis are ra …
Rhabdomyolysis is a compound disease that may be induced by many factors, both congenital and acquired. Statin therapy is considered …
Clinical and histologic findings in autosomal centronuclear myopathy.
Jeannet PY, Bassez G, Eymard B, Laforêt P, Urtizberea JA, Rouche A, Guicheney P, Fardeau M, Romero NB. Jeannet PY, et al. Neurology. 2004 May 11;62(9):1484-90. doi: 10.1212/01.wnl.0000124388.67003.56. Neurology. 2004. PMID: 15136669 Review.
Centronuclear myopathy (CNM) is a congenital myopathy characterized by chains of centrally located nuclei in a large number of muscle fibers. ...A marked endomysial fibrosis was observed in three sporadic patients with a relatively severe clinical cour …
Centronuclear myopathy (CNM) is a congenital myopathy characterized by chains of centrally located nuclei in a large nu …
Prevalence and phenotypes of congenital myopathy due to alpha-actin 1 gene mutations.
Witting N, Werlauff U, Duno M, Vissing J. Witting N, et al. Muscle Nerve. 2016 Mar;53(3):388-93. doi: 10.1002/mus.24765. Epub 2015 Aug 13. Muscle Nerve. 2016. PMID: 26172852
METHODS: A national cohort of 91 patients aged 5 years and diagnosed with congenital myopathy was assessed for ACTA1 mutations and investigated clinically. ...This study shows that the prevalence of alpha-actin myopathy in older patients with congenital …
METHODS: A national cohort of 91 patients aged 5 years and diagnosed with congenital myopathy was assessed for ACTA1 mutations …
Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic review.
Leung DG. Leung DG. J Neurol. 2017 Jul;264(7):1320-1333. doi: 10.1007/s00415-016-8350-6. Epub 2016 Nov 25. J Neurol. 2017. PMID: 27888415 Free PMC article. Review.
A growing body of the literature supports the use of magnetic resonance imaging as a potential biomarker for disease severity in the hereditary myopathies. We performed a systematic review of the medical literature to evaluate patterns of fat infiltration observed i …
A growing body of the literature supports the use of magnetic resonance imaging as a potential biomarker for disease severity in the heredit …
Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy.
Statland JM, Campbell C, Desai U, Karam C, Díaz-Manera J, Guptill JT, Korngut L, Genge A, Tawil RN, Elman L, Joyce NC, Wagner KR, Manousakis G, Amato AA, Butterfield RJ, Shieh PB, Wicklund M, Gamez J, Bodkin C, Pestronk A, Weihl CC, Vilchez-Padilla JJ, Johnson NE, Mathews KD, Miller B, Leneus A, Fowler M, van de Rijn M, Attie KM. Statland JM, et al. Muscle Nerve. 2022 Jul;66(1):50-62. doi: 10.1002/mus.27558. Epub 2022 May 9. Muscle Nerve. 2022. PMID: 35428982 Free PMC article. Clinical Trial.
INTRODUCTION/AIMS: Facioscapulohumeral muscular dystrophy (FSHD) is a slowly progressive muscular dystrophy without approved therapies. ...Functional measures included 6-minute walk test, 10-meter walk/run, and 4-stair climb (TA group), and performance of upper limb …
INTRODUCTION/AIMS: Facioscapulohumeral muscular dystrophy (FSHD) is a slowly progressive muscular dystrophy without approved t …
Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.
Gregory LC, Shah P, Sanner JRF, Arancibia M, Hurst J, Jones WD, Spoudeas H, Le Quesne Stabej P, Williams HJ, Ocaka LA, Loureiro C, Martinez-Aguayo A, Dattani MT. Gregory LC, et al. J Clin Endocrinol Metab. 2019 Dec 1;104(12):5737-5750. doi: 10.1210/jc.2019-00631. J Clin Endocrinol Metab. 2019. PMID: 31504653 Free PMC article.
CONTEXT: Congenital hypopituitarism (CH) is rarely observed in combination with severe joint contractures (arthrogryposis). ...RESULTS: Human embryonic expression analysis revealed MAGEL2 transcripts in the developing hypothalamus and ventral diencephalon at Carnegi …
CONTEXT: Congenital hypopituitarism (CH) is rarely observed in combination with severe joint contractures (arthrogryposis). .. …
Muscle magnetic resonance imaging in patients with LAMA2-related muscular dystrophy.
Tan D, Ge L, Fan Y, Wei C, Yang H, Liu A, Xiao J, Xiong H, Zhu Y. Tan D, et al. Neuromuscul Disord. 2021 Nov;31(11):1144-1153. doi: 10.1016/j.nmd.2021.09.006. Epub 2021 Sep 23. Neuromuscul Disord. 2021. PMID: 34702656
LAMA2-related muscular dystrophy (LAMA2-MD) is classified into congenital muscular dystrophy type 1A (MDC1A) and autosomal recessive limb-girdle muscular dystrophy-23 (LGMDR23). ...Strong correlation between fatty infiltration and age as well as …
LAMA2-related muscular dystrophy (LAMA2-MD) is classified into congenital muscular dystrophy type 1A (MDC1A) and autoso …
115 results