Sibling cases of <i>four and a half LIM domains 1</i> (<i>FHL1</i>) myopathy who developed respiratory failure without apparent limb weakness
Author:
Affiliation:
1. Department of Neurology, Osaka City University Graduate School of Medicine
2. Department of Cardiology, Osaka City University Graduate School of Medicine
3. Department of Neuromuscular Research, National Center of Neurology and Psychiatry
Publisher
Societas Neurologica Japonica
Subject
Neurology (clinical)
Link
https://www.jstage.jst.go.jp/article/clinicalneurol/62/9/62_cn-001761/_pdf
Reference18 articles.
1. 1) Chu PH, Ruiz-Lozano P, Zhou Q, et al. Expression patterns of FHL/SLIM family members suggest important functional roles in skeletal muscle and cardiovascular system. Mech Dev 2000;95:259-265.
2. 2) Cowling BS, Cottle DL, Wilding BR, et al. Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features. Neuromuscul Disord 2011;21:237-251.
3. 3) Racca F, Vianello A, Mongini T, et al. Practical approach to respiratory emergencies in neurological diseases. Neurol Sci 2020;41:497-508.
4. 4) Naddaf E, Milone M. Hereditary myopathies with early respiratory insufficiency in adults. Muscle Nerve 2017;56:881-886.
5. 5) Edström L, Thornell LE, Albo J, et al. Myopathy with respiratory failure and typical myofibrillar lesions. J Neurol Sci 1990;96:211-228.
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