A novel mutation in the DYSF gene in a patient with a presumed inflammatory myopathy-Reference-Cited by-同舟云学术

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A novel mutation in the DYSF gene in a patient with a presumed inflammatory myopathy

Published:2018-05-25 Issue:4 Volume:38 Page:433-437
ISSN:0919-6544
Container-title:Neuropathology
language:en
Short-container-title:Neuropathology

Author:

Tang Jin¹^ORCID,Song Xueqin¹,Ji Guang¹,Wu Hongran¹,Sun Shuyan¹,Lu Shan¹,Li Yuan¹,Zhang Chi¹,Zhang Huiqing¹

Affiliation:

1. Department of Neurology; The Second Hospital of Hebei Medical University; Shijiahzuang China

Publisher

Wiley

Subject

Clinical Neurology,General Medicine,Pathology and Forensic Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/neup.12474/fullpdf

Reference16 articles.

1. EFNS guideline on diagnosis and management of limb girdle muscular dystrophies;Norwood;Eur J Neurol,2010

2. Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America;Vernengo;Neuromuscul Disord,2011

3. Progress and challenges in diagnosis of dysferlinopathy;Fanin;Muscle Nerve,2016

4. Disease-targeted sequencing: A cornerstone in the clinic;Rehm;Nat Rev Genet,2013

5. Analysis of the DYSF mutational spectrum in a large cohort of patients;Krahn;Hum Mutat,2009

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2. Screening and identification of key biomarkers associated with endometriosis using bioinformatics and next generation sequencing data analysis;2024-05-08

3. A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report;BMC Musculoskeletal Disorders;2024-03-27

4. Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report;BMC Musculoskeletal Disorders;2024-02-16

5. Reasons for misdiagnosis of polymyositis in patients with dysferlinopathy: a clinical case;Neuromuscular Diseases;2022-12-13

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