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Article

Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 Mutation.

Journal of clinical neuromuscular disease - 1 Dec 2022

Oh Shin J, King Peter H, Schindler Alice

Abstract excerpt

ABSTRACT: 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...

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Identifiers

PMID: 36409338
DOI: 10.1097/CND.0000000000000398

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