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Minicore myopathy in children: a clinical and histopathological study of 19 cases.
Jungbluth H, Sewry C, Brown SC, Manzur AY, Mercuri E, Bushby K, Rowe P, Johnson MA, Hughes I, Kelsey A, Dubowitz V, Muntoni F. Jungbluth H, et al. Neuromuscul Disord. 2000 Jun;10(4-5):264-73. doi: 10.1016/s0960-8966(99)00125-x. Neuromuscul Disord. 2000. PMID: 10838253
Cardiac involvement occurred mainly secondary to respiratory impairment. The course appeared static in most cases. Loss of independent walking was observed only in one case at the age of 10 years. ...
Cardiac involvement occurred mainly secondary to respiratory impairment. The course appeared static in most cases. Loss of independen …
Congenital myopathy with a novel SELN missense mutation and the challenge to differentiate it from congenital muscular dystrophy.
Kazamel M, Milone M. Kazamel M, et al. J Clin Neurosci. 2019 Apr;62:238-239. doi: 10.1016/j.jocn.2018.12.024. Epub 2019 Jan 3. J Clin Neurosci. 2019. PMID: 30612914
Genetic testing is needed to establish the precise diagnosis and provide overall prognosis. Here we report a 23-year-old woman with respiratory failure, distal joint hyper-laxity, scoliosis and rigid spine due to multiminicore disease caused by a novel compound heterozygou …
Genetic testing is needed to establish the precise diagnosis and provide overall prognosis. Here we report a 23-year-old woman with r …
Clinical utility gene card for: Multi-minicore disease.
Lillis S, Abbs S, Ferreiro A, Muntoni F, Jungbluth H. Lillis S, et al. Eur J Hum Genet. 2012 Feb;20(2). doi: 10.1038/ejhg.2011.180. Epub 2011 Oct 19. Eur J Hum Genet. 2012. PMID: 22009146 Free PMC article. No abstract available.