Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy.

التفاصيل البيبلوغرافية
العنوان:	Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy.
المؤلفون:	Nóbrega PR; Department of Neurology, Faculdade de Medicina, Universidade Federal do Ceará, R. Alexandre Baraúna, 949, Rodolfo Teófilo, Fortaleza, CE, 60430-160, Brazil. paulo_r_med@yahoo.com.br.; Department of Neurology, Faculdade de Medicina, Universidade de São Paulo (FMUSP), Av. Dr. Arnaldo, 455, Cerqueira César, Pacaembu, São Paulo, 01246-903, Brazil. paulo_r_med@yahoo.com.br.; Faculty of Medicine, Unichristus University, Rua Vereador Paulo Mamede, 131, Fortaleza, CE, 60160-196, Brazil. paulo_r_med@yahoo.com.br., de Brito de Souza JL; Center of Health Sciences, Universidade Estadual do Ceará, Av. Dr. Silas Munguba, 1700, Itaperi, Fortaleza, CE, 60714-903, Brazil., Maurício RB; Center of Health Sciences, Universidade Estadual do Ceará, Av. Dr. Silas Munguba, 1700, Itaperi, Fortaleza, CE, 60714-903, Brazil., de Paiva ARB; Department of Neurology, Faculdade de Medicina, Universidade de São Paulo (FMUSP), Av. Dr. Arnaldo, 455, Cerqueira César, Pacaembu, São Paulo, 01246-903, Brazil.; Mendelics Genomic Analysis, Av. Braz Leme, 1631, Casa Verde, São Paulo, SP, 02511-000, Brazil., Dias DA; Department of Radiology, Faculdade de Medicina da Universidade Federal do Ceará, R. Alexandre Baraúna, 949, Rodolfo Teófilo, Fortaleza, CE, 60430-160, Brazil., Camelo CG; Department of Neurology, Faculdade de Medicina, Universidade de São Paulo (FMUSP), Av. Dr. Arnaldo, 455, Cerqueira César, Pacaembu, São Paulo, 01246-903, Brazil., Zanotelli E; Department of Neurology, Faculdade de Medicina, Universidade de São Paulo (FMUSP), Av. Dr. Arnaldo, 455, Cerqueira César, Pacaembu, São Paulo, 01246-903, Brazil., Schlesinger D; Mendelics Genomic Analysis, Av. Braz Leme, 1631, Casa Verde, São Paulo, SP, 02511-000, Brazil., Braga-Neto P; Department of Neurology, Faculdade de Medicina, Universidade Federal do Ceará, R. Alexandre Baraúna, 949, Rodolfo Teófilo, Fortaleza, CE, 60430-160, Brazil.; Center of Health Sciences, Universidade Estadual do Ceará, Av. Dr. Silas Munguba, 1700, Itaperi, Fortaleza, CE, 60714-903, Brazil., Moreno CAM; Department of Neurology, Faculdade de Medicina, Universidade de São Paulo (FMUSP), Av. Dr. Arnaldo, 455, Cerqueira César, Pacaembu, São Paulo, 01246-903, Brazil.; Mendelics Genomic Analysis, Av. Braz Leme, 1631, Casa Verde, São Paulo, SP, 02511-000, Brazil.
المصدر:	Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2024 Mar; Vol. 45 (3), pp. 1225-1231. Date of Electronic Publication: 2023 Oct 18.
نوع المنشور:	Journal Article
اللغة:	English
بيانات الدورية:	Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE
أسماء مطبوعة:	Original Publication: Milano, Italy : Springer-Verlag Italia, c2000-
مواضيع طبية MeSH:	Myopathies, Nemaline/genetics , Myopathies, Nemaline/pathology , Autism Spectrum Disorder*, Humans ; Muscle, Skeletal/pathology ; Muscle Proteins/genetics ; Muscle Proteins/metabolism ; Central Nervous System ; Mutation
مستخلص:	Background: Inherited nemaline myopathy is one of the most common congenital myopathies. This genetically heterogeneous disease is defined by the presence of nemaline bodies in muscle biopsy. The phenotypic spectrum is wide and cognitive involvement has been reported, although not extensively evaluated. Methods: We report two nemaline myopathy patients presenting pronounced central nervous system involvement leading to functional compromise and novel facial and skeletal dysmorphic findings, possibly expanding the disease phenotype. Results: One patient had two likely pathogenic NEB variants, c.2943G > A and c.8889 + 1G > A, and presented cognitive impairment and dysmorphic features, and the other had one pathogenic variant in ACTA1, c.169G > C (p.Gly57Arg), presenting autism spectrum disorder and corpus callosum atrophy. Both patients had severe cognitive involvement despite milder motor dysfunction. Conclusion: We raise the need for further studies regarding the role of thin filament proteins in the central nervous system and for a systematic cognitive assessment of congenital myopathy patients. (© 2023. Fondazione Società Italiana di Neurologia.)
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فهرسة مساهمة:	Keywords: Acta1; Congenital myopathy; Nebulin; Nemaline myopathy
المشرفين على المادة:	0 (Muscle Proteins)
تواريخ الأحداث:	Date Created: 20231018 Date Completed: 20240214 Latest Revision: 20240214
رمز التحديث:	20240214
DOI:	10.1007/s10072-023-07128-6
PMID:	37851294
قاعدة البيانات:	MEDLINE

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تدمد:	1590-3478
DOI:	10.1007/s10072-023-07128-6