McArdle disease presenting as abnormal liver function: biochemical, anatomical and genetic characterisation in the first genetically confirmed Chinese family with a novel splicing variant

• Published in: Pathology Vol. 53; no. 5; pp. 670 - 673
• Main Authors: Lau, Nike Kwai Cheung, Chong, Yeow Kuan, Cheung, Kelvin Pak Kin, Loo, Ka Tai, Ching, Chor Kwan
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.08.2021
• Subjects: Adult; Asians; Glycogen Storage Disease Type V - diagnosis; Glycogen Storage Disease Type V - genetics; Glycogen Storage Disease Type V - pathology; Humans; Liver - abnormalities; Liver - pathology; Male; Mutation - genetics; RNA Splicing - genetics