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- Shin J. Oh
- Department of Neurology, University of Alabama at Birmingham, Birmingham, AL; and
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- Peter H. King
- Department of Neurology, University of Alabama at Birmingham, Birmingham, AL; and
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- Alice Schindler
- Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.
抄録
<jats:title>Abstract</jats:title> <jats:p>Docking protein 7 (DOK7) congenital myasthenic syndrome (CMS) is characterized by limb-girdle weakness and lack of fluctuating fatigability simulating many familial myopathies. Albuterol is the first line of therapy in view of consistent improvement. Two brothers with progressive predominant biceps weakness for 1–3 years responded to prednisone treatment for 40–50 years. Various studies including muscle biopsy and many laboratory studies were unsuccessful for the definite diagnosis. Gene study, 40 years after the initial evaluation, confirmed the diagnosis of DOK7 CMS. These are the first reported cases of DOK7 CMS associated with a sustained benefit from corticosteroids.</jats:p>
収録刊行物
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- Journal of Clinical Neuromuscular Disease
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Journal of Clinical Neuromuscular Disease 24 (2), 80-84, 2022-12
Ovid Technologies (Wolters Kluwer Health)