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Year Number of Results
1989 1
2008 1
2009 1
2010 1
2020 1
2024 0

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Page 1
Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.
Lawal TA, Todd JJ, Witherspoon JW, Bönnemann CG, Dowling JJ, Hamilton SL, Meilleur KG, Dirksen RT. Lawal TA, et al. Skelet Muscle. 2020 Nov 16;10(1):32. doi: 10.1186/s13395-020-00243-4. Skelet Muscle. 2020. PMID: 33190635 Free PMC article. Review.
RYR1-RM-affected individuals can present with delayed motor milestones, contractures, scoliosis, ophthalmoplegia, and respiratory insufficiency.Historically, RYR1-RM-affected individuals were diagnosed based on morphologic features observed in muscle biopsies including cen …
RYR1-RM-affected individuals can present with delayed motor milestones, contractures, scoliosis, ophthalmoplegia, and respiratory insufficie …
Fowler syndrome-a clinical, radiological, and pathological study of 14 cases.
Williams D, Patel C, Fallet-Bianco C, Kalyanasundaram K, Yacoubi M, Déchelotte P, Scott R, Bazin A, Bessières B, Marton T, Cox P. Williams D, et al. Am J Med Genet A. 2010 Jan;152A(1):153-60. doi: 10.1002/ajmg.a.33094. Am J Med Genet A. 2010. PMID: 20014121
Extra-cranial anomalies included micrognathia (10 fetuses), cleft palate (1 fetus), cystic hygroma (2 fetuses), joint contractures (12 fetuses), and pterygia (11 fetuses). The typical proliferative vasculopathy was never observed outside the central nervous system and kary …
Extra-cranial anomalies included micrognathia (10 fetuses), cleft palate (1 fetus), cystic hygroma (2 fetuses), joint contractures (12 fetus …
Case of lethal multiple pterygium syndrome with special reference to the origin of pterygia.
Hartwig NG, Vermeij-Keers C, Bruijn JA, van Groningen K, Ottervanger HP, Holm JP. Hartwig NG, et al. Am J Med Genet. 1989 Aug;33(4):537-41. doi: 10.1002/ajmg.1320330425. Am J Med Genet. 1989. PMID: 2531978
A case of lethal multiple pterygium syndrome is presented. Besides the anomalies usually associated with this syndrome, cardiac hypertrophy and connective tissue abnormalities were observed. On the basis of these observations, we suggest …
A case of lethal multiple pterygium syndrome is presented. Besides the anomalies usually associated with this sy …
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Körber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K. Michalk A, et al. Am J Hum Genet. 2008 Feb;82(2):464-76. doi: 10.1016/j.ajhg.2007.11.006. Am J Hum Genet. 2008. PMID: 18252226 Free PMC article.
Acetylcholine receptor (AChR) components are suspects because mutations in the fetally expressed gamma subunit (CHRNG) of AChR were found in two FADS disorders, lethal multiple pterygium syndrome (LMPS) and Escobar syndrome. Other AChR subunits alpha1, …
Acetylcholine receptor (AChR) components are suspects because mutations in the fetally expressed gamma subunit (CHRNG) of AChR were found in …
Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy.
Monnier N, Lunardi J, Marty I, Mezin P, Labarre-Vila A, Dieterich K, Jouk PS. Monnier N, et al. Neuromuscul Disord. 2009 Feb;19(2):118-23. doi: 10.1016/j.nmd.2008.11.009. Epub 2009 Jan 19. Neuromuscul Disord. 2009. PMID: 19155175
While TPM2 mutations identified so far in muscular diseases were all associated with a dominant inheritance pattern, we report the identification of a homozygous null allele mutation in the TPM2 gene in a patient who presented with a recessive form of nemaline myopathy associated …
While TPM2 mutations identified so far in muscular diseases were all associated with a dominant inheritance pattern, we report the identific …