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.
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.
Congenital myopathies.
Romero NB, Clarke NF.
Handb Clin Neurol. 2013;113:1321-36. doi: 10.1016/B978-0-444-59565-2.00004-6.
Congenital myopathies.
Laing NG.
Curr Opin Neurol. 2007 Oct;20(5):583-9. doi: 10.1097/WCO.0b013e3282ef6e69.
Congenital myopathy.
Shapira Y.
Neurology. 1990 Jun;40(6):1012. doi: 10.1212/wnl.40.6.1012.
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.
de Feraudy Y, Vandroux M, Romero NB, Schneider R, Saker S, Boland A, Deleuze JF, Biancalana V, Böhm J, Laporte J.
Genome Med. 2024 Jul 9;16(1):87. doi: 10.1186/s13073-024-01353-0.
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.
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.
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.
Neonatal hypotonia and neuromuscular conditions.
Mercuri E, Pera MC, Brogna C.
Handb Clin Neurol. 2019;162:435-448. doi: 10.1016/B978-0-444-64029-1.00021-7.
