Congenital Myopathy With Cap-Like Structures and Nemaline Rods: Case Report and Literature Review
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Developmental Neuroscience,Neurology,Pediatrics, Perinatology, and Child Health
Reference31 articles.
1. “Cap disease”: new congenital myopathy;Fidzianska;Neurology,1981
2. “Cap disease”—a failure in the correct muscle fibre formation;Fidzianska;J Neurol Sci,2002
3. New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations;Ohlsson;Neurology,2008
4. A TPM3 mutation causing cap myopathy;De Paula;Neuromuscul Disord,2009
5. Cap disease due to mutation of the beta-tropomyosin gene (TPM2);Clarke;Neuromuscul Disord,2009
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1. Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy;Clinical Genetics;2021-02-11
2. Congenital Myopathies and Related Disorders;Muscle Biopsy;2021
3. Respiratory Failure as the Presenting Symptom in a Sporadic Case of Cap Myopathy;Journal of Neuropathology & Experimental Neurology;2020-11-26
4. Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy;Journal of Medical Genetics;2020-09-29
5. Nebulin: big protein with big responsibilities;Journal of Muscle Research and Cell Motility;2020-01-25
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