A novel compound heterozygous mutation in PYGM gene associated with McArdle's disease.

Iacono, Salvatore; Lupica, Antonino; Di Stefano, Vincenzo; Borgione, Eugenia; Brighina, Filippo

Iacono, Salvatore; Lupica, Antonino; Di Stefano, Vincenzo; Borgione, Eugenia; Brighina, Filippo.

Affiliation

Iacono S; Section of Neurology, Department of Biomedicine, Neuroscience, and advanced Diagnostic (BiND), University of Palermo, Palermo, Italy.
Lupica A; Section of Neurology, Department of Biomedicine, Neuroscience, and advanced Diagnostic (BiND), University of Palermo, Palermo, Italy.
Di Stefano V; Section of Neurology, Department of Biomedicine, Neuroscience, and advanced Diagnostic (BiND), University of Palermo, Palermo, Italy.
Borgione E; Unit of Neuromuscular Diseases, Oasi Research Institute-IRCCS, Troina, Italy.
Brighina F; Section of Neurology, Department of Biomedicine, Neuroscience, and advanced Diagnostic (BiND), University of Palermo, Palermo, Italy.

Acta Myol ; 41(1): 37-40, 2022 Mar.

Article in En | MEDLINE | ID: mdl-35465342

Subject(s)

Glycogen Phosphorylase, Muscle Form; Glycogen Storage Disease Type V; Adolescent; Glycogen Phosphorylase, Muscle Form/genetics; Glycogen Storage Disease Type V/diagnosis; Glycogen Storage Disease Type V/genetics; Humans; Male; Muscle Cramp/genetics; Mutation; Myalgia

Key words

McArdle's disease; PYGM; glycogenosis; hyperCKemia; second wind phenomenon

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Glycogen Storage Disease Type V / Glycogen Phosphorylase, Muscle Form Type of study: Diagnostic_studies / Risk_factors_studies Limits: Adolescent / Humans / Male Language: En Journal: Acta Myol Journal subject: CARDIOLOGIA / FISIOLOGIA Year: 2022 Type: Article Affiliation country: Italy

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