Identification of a novel PYGM mutation in a McArdle disease patient misdiagnosed as hypokalemic periodic paralysis.

Xie, R R; Yang, Y B; Jin, P

Xie, R R; Yang, Y B; Jin, P.

Affiliation

Xie RR; Department of Endocrinology, The Third Xiangya Hospital Central South University, Tongzipo Road, Hunan Province, 410007, Changsha, People's Republic of China.
Yang YB; Department of Endocrinology, The Third Xiangya Hospital Central South University, Tongzipo Road, Hunan Province, 410007, Changsha, People's Republic of China.
Jin P; Department of Endocrinology, The Third Xiangya Hospital Central South University, Tongzipo Road, Hunan Province, 410007, Changsha, People's Republic of China. jping7676@hotmail.com.

J Endocrinol Invest ; 43(5): 697-698, 2020 May.

Article in En | MEDLINE | ID: mdl-32100198

Subject(s)

Glycogen Phosphorylase, Muscle Form/genetics; Glycogen Storage Disease Type V; Hypokalemic Periodic Paralysis/diagnosis; Adult; Consanguinity; Creatine Kinase/blood; Diagnosis, Differential; Exercise Tolerance/physiology; Genetic Testing; Glycogen Storage Disease Type V/blood; Glycogen Storage Disease Type V/diagnosis; Glycogen Storage Disease Type V/genetics; Glycogen Storage Disease Type V/physiopathology; Humans; Male; Muscle Fatigue/genetics; Muscle Weakness/diagnosis; Muscle Weakness/etiology; Mutation, Missense; Pedigree

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Glycogen Storage Disease Type V / Hypokalemic Periodic Paralysis / Glycogen Phosphorylase, Muscle Form Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies Limits: Adult / Humans / Male Language: En Journal: J Endocrinol Invest Year: 2020 Type: Article

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