Neurofibromatosis type 1 (NF1) with an unusually severe phenotype due to digeny for NF1 and ryanodine receptor 1 associated myopathy-Reference-Cited by-同舟云学术

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Neurofibromatosis type 1 (NF1) with an unusually severe phenotype due to digeny for NF1 and ryanodine receptor 1 associated myopathy

Published:2014-04-08 Issue:12 Volume:173 Page:1691-1694
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Martin Florence,Kana Veronika,Mori Andrea Capone,Fischer Dirk,Parkin Nicolas,Boltshauser Eugen,Rushing Elisabeth Jane,Klein Andrea

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00431-014-2314-6.pdf

Reference14 articles.

1. Carlier PG, Mercuri E, Straub V (2012) Applications of MRI in muscle diseases. Neuromuscul Disord 22(Suppl 2):S41

2. Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, Upadhyaya M, Towers R, Gleeson M, Steiger C, Kirby A (2007) Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 44:81–88

3. Filosto M, Tonin P, Scarpelli M, Savio C, Greco F, Mancuso M, Vattemi G, Govoni V, Rizzuto N, Tupler R, Tomelleri G (2008) Novel mitochondrial tRNA Leu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype. Neuromuscul Disord 18:204–209

4. Jokela M, Udd B, Paivarinta M (2012) Double trouble: spinal muscular atrophy type II and seropositive myasthenia gravis in the same patient. Neuromuscul Disord 22:129–130

5. Klein A, Jungbluth H, Clement E, Lillis S, Abbs S, Munot P, Pane M, Wraige E, Schara U, Straub V, Mercuri E, Muntoni F (2011) Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. Arch Neurol 68:1171–1179

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype–Phenotype Correlations;Cancers;2023-02-14

2. Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study;Acta Neuropathologica Communications;2022-04-15

3. Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums;American Journal of Medical Genetics Part A;2021-11-19

4. Early Findings in Neonatal Cases of RYR1–Related Congenital Myopathies;Frontiers in Neurology;2021-06-28

5. Dual molecular diagnoses in a neurometabolic specialty clinic;American Journal of Medical Genetics Part A;2020-12-24

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