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Total 11221 results found since Jan 2013.

Arrhythmias in patients with X-linked myotubular myopathy
We report two clinical cases of XLMTM that started with severe sinus bradycardia or auriculoventricular block from the first days of life, with pathologic 24-hours Holter monitoring in both cases. A primary cardiac affection was excluded by electrophysiological studies and normal heart rate was recovered with proper respiratory support.DISCUSSION: These cases with sever bradyarrhythmia in a well know pathology such the XLMTM represents a nuance on the usual differential diagnostics of congenital myopathies.PMID:37466134 | DOI:10.33588/rn.7703.2022222
Source: Revista de Neurologia - July 19, 2023 Category: Neurology Authors: M Pons-Espinal J Clotet-Caba S Cesar-D íaz D Yubero-Siles Source Type: research

Clinical characteristics of myositis patients with isolated anti-U1 ribonucleoprotein antibody resemble immune-mediated necrotizing myopathy
CONCLUSIONS: The clinical and pathological features of myositis patients with isolated anti-U1RNP antibodies were similar to IMNM. Arthritis and ILD are the most common extramuscular clinical features. Most respond well to treatment and have a good prognosis.PMID:37465567 | PMC:PMC10350785 | DOI:10.1177/1759720X231181336
Source: Adv Data - July 19, 2023 Category: Epidemiology Authors: Yongpeng Ge Hongxia Yang Wei Jiang Xiaolan Tian Xin Lu Guochun Wang Source Type: research

Arrhythmias in patients with X-linked myotubular myopathy
We report two clinical cases of XLMTM that started with severe sinus bradycardia or auriculoventricular block from the first days of life, with pathologic 24-hours Holter monitoring in both cases. A primary cardiac affection was excluded by electrophysiological studies and normal heart rate was recovered with proper respiratory support.DISCUSSION: These cases with sever bradyarrhythmia in a well know pathology such the XLMTM represents a nuance on the usual differential diagnostics of congenital myopathies.PMID:37466134 | DOI:10.33588/rn.7703.2022222
Source: Revista de Neurologia - July 19, 2023 Category: Neurology Authors: M Pons-Espinal J Clotet-Caba S Cesar-D íaz D Yubero-Siles Source Type: research

An atypical presentation of hypothyroidism with extremely exaggerated functional impairment
We report a 34-year-old woman, presenting with a new atypical musculoskeletal manifestation of hypothyroidism mimicking polymyositis.
Source: Clinical Case Reports - July 19, 2023 Category: General Medicine Authors: Alireza Arezoumand, Sahar Nazari, Kimia Jazi, Mohammad Bagherzade, Mohammad Mehdi Riahi, Melika AkbariMehr, Narges Kanganee, Maryam Masoumi Tags: CASE REPORT Source Type: research

A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy
European Journal of Human Genetics, Published online: 19 July 2023; doi:10.1038/s41431-023-01433-6A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy
Source: European Journal of Human Genetics - July 19, 2023 Category: Genetics & Stem Cells Authors: Dario Ronchi Manuela Garbellini Francesca Magri Francesca Menni Megi Meneri Maria Francesca Bedeschi Robertino Dilena Valeria Cecchetti Irene Picciolli Francesca Furlan Valentina Polimeni Sabrina Salani Laura Pezzoli Francesco Fortunato Matteo Bellini Dan Source Type: research

Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants
European Journal of Human Genetics, Published online: 18 July 2023; doi:10.1038/s41431-023-01378-wNemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants
Source: European Journal of Human Genetics - July 18, 2023 Category: Genetics & Stem Cells Authors: Alireza Haghighi Zahra Alvandi Yalda Nilipour Amirreza Haghighi Ruth Kornreich Shahriar Nafissi Robert J. Desnick Source Type: research

Prevalence of Neuromuscular Diseases in Young South Korean Males; A Korean Military Manpower Administration Data-Based Study
CONCLUSIONS: The 10-year PRs of hereditary polyneuropathies, HD, MG, and inherited muscle diseases in young South Korean males have been reported. These data could be valuable to understanding each neuromuscular disease in the young male population of South Korea.PMID:37455505 | DOI:10.3988/jcn.2022.0261
Source: Journal of Clinical Neurology - July 17, 2023 Category: Neurology Authors: Kyoung-Eun Kim Eun Jin Kim Kwangdong Kim Jaechan Park Chul Jung Jae-Hyun Yun Kihun Son Source Type: research

Whole exome sequencing identifies a novel variant in the COL12A1 gene in a family with Ullrich congenital muscular dystrophy 2
CONCLUSION: Our investigation contributes to the expanding body of evidence that links mutations in COL12A1 with UCMD2. Our findings confirm that the homozygous mutation in COL12A1 caused this condition and suggest that genetic testing for this mutation may be useful for diagnosing patients with this disease.PMID:37458870 | DOI:10.1007/s11033-023-08644-6
Source: Molecular Biology Reports - July 17, 2023 Category: Molecular Biology Authors: Karim Naghipoor Teymoor Khosravi Morteza Oladnabi Source Type: research

Prevalence of Neuromuscular Diseases in Young South Korean Males; A Korean Military Manpower Administration Data-Based Study
CONCLUSIONS: The 10-year PRs of hereditary polyneuropathies, HD, MG, and inherited muscle diseases in young South Korean males have been reported. These data could be valuable to understanding each neuromuscular disease in the young male population of South Korea.PMID:37455505 | DOI:10.3988/jcn.2022.0261
Source: Journal of Clinical Neurology - July 17, 2023 Category: Neurology Authors: Kyoung-Eun Kim Eun Jin Kim Kwangdong Kim Jaechan Park Chul Jung Jae-Hyun Yun Kihun Son Source Type: research

Whole exome sequencing identifies a novel variant in the COL12A1 gene in a family with Ullrich congenital muscular dystrophy 2
CONCLUSION: Our investigation contributes to the expanding body of evidence that links mutations in COL12A1 with UCMD2. Our findings confirm that the homozygous mutation in COL12A1 caused this condition and suggest that genetic testing for this mutation may be useful for diagnosing patients with this disease.PMID:37458870 | DOI:10.1007/s11033-023-08644-6
Source: Molecular Biology Reports - July 17, 2023 Category: Molecular Biology Authors: Karim Naghipoor Teymoor Khosravi Morteza Oladnabi Source Type: research