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congenital myopathy相关文献:
Differentiating Congenital Myopathy from Congenital Muscular Dystrophy.
Harmelink M.
Clin Perinatol. 2020 Mar;47(1):197-209. doi: 10.1016/j.clp.2019.10.005. Epub 2019 Oct 11.
PMID:32000926
Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature.
Marinella G, Orsini A, Scacciati M, Costa E, Santangelo A, Astrea G, Frosini S, Pasquariello R, Rubegni A, Sgherri G, Corsi M, Bonuccelli A, Battini R.
Genes (Basel). 2023 Jun 28;14(7):1363. doi: 10.3390/genes14071363.
PMID:37510268
Bone Quality in Patients with a Congenital Myopathy: A Scoping Review.
Bouman K, Dittrich ATM, Groothuis JT, van Engelen BGM, Janssen MCH, Voermans NC, Draaisma JMT, Erasmus CE.
J Neuromuscul Dis. 2023;10(1):1-13. doi: 10.3233/JND-221543.
PMID:36314217
Congenital myopathies.
Romero NB, Clarke NF.
Handb Clin Neurol. 2013;113:1321-36. doi: 10.1016/B978-0-444-59565-2.00004-6.
PMID:23622357
Congenital myopathies.
Laing NG.
Curr Opin Neurol. 2007 Oct;20(5):583-9. doi: 10.1097/WCO.0b013e3282ef6e69.
PMID:17885449
Congenital myopathy.
Shapira Y.
Neurology. 1990 Jun;40(6):1012. doi: 10.1212/wnl.40.6.1012.
PMID:2345610
Collagen VI in the Musculoskeletal System.
Di Martino A, Cescon M, D'Agostino C, Schilardi F, Sabatelli P, Merlini L, Faldini C.
Int J Mol Sci. 2023 Mar 7;24(6):5095. doi: 10.3390/ijms24065095.
PMID:36982167
Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches.
Lawal TA, Todd JJ, Meilleur KG.
Neurotherapeutics. 2018 Oct;15(4):885-899. doi: 10.1007/s13311-018-00677-1.
PMID:30406384
Electromyography in congenital nemaline myopathy.
Wallgren-Pettersson C, Sainio K, Salmi T.
Muscle Nerve. 1989 Jul;12(7):587-93. doi: 10.1002/mus.880120710.
PMID:2674705
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K, Bailey A, Hwang JH, Tarnopolsky MA, Bonnemann CG, Medne L, Mathews KD, Collins J, Daube JR, Wellman GP, Callaghan B, Clarke NF, Dowling JJ.
Orphanet J Rare Dis. 2013 Aug 6;8:117. doi: 10.1186/1750-1172-8-117.
PMID:23919265
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