Different Phenotypes Caused by the Unique Mutation in the Same Family with Mitochondrial Encephalomyopathy
نویسندگان
چکیده
منابع مشابه
LPIN1 deficiency: A novel mutation associated with different phenotypes in the same family
1 These authors contributed equally to this work. Rhabdomyolysis (RM) is characterized by acute and often severe skeletal muscle damage resulting in myoglobinuria and, in severe cases, acute renal failure [1]. In adults is typically due to trauma, intoxication or infection, whereas in children is frequently associated with inherited muscle disorders [2]. LPIN1 mutations were identified as a cau...
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ژورنال
عنوان ژورنال: BIOMEDICA
سال: 2020
ISSN: 1992-4852,2710-3471
DOI: 10.51441/biomedica/5-85