Congenital Myopathies and Related Disorders
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Publisher
Elsevier
Reference305 articles.
1. Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients;Abath Neto;Neuromuscul Disord,2017
2. Lethal multiple pterygium syndrome: a severe phenotype associated with a novel mutation in the nebulin gene;Abdalla;Neuromuscul Disord,2017
3. Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1);Abdulhaq;Muscle Nerve,2016
4. Congenital nonprogressive myopathy. Central core disease and nemaline myopathy in one family;Afifi;Neurology,1965
5. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2;Agrawal;Am J Hum Genet,2007
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