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Human cultured myoblasts: A model for the diagnosis of mitochondrial diseases
Author(s) -
Dumoulin R.,
Mandon G.,
Collombet J. M.,
Blond J. L.,
Carrier H.,
Godinot C.,
Flocard F.,
Villard J.,
Guibaud P.,
Mathieu M.,
Mousson B.
Publication year - 1993
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00711677
Subject(s) - medicine , philosophy
We report five patients (aged from 4 to 31 years) with mitochondrial defects diagnosed by classical investigations of skeletal muscle biopsies: carnitine palmitoyl transferase II (CPT II), 2-ketoglutarate dehydrogenase (2-KGD) and respiratory chain (3243 mitochondrial DNA mutation) deficiencies. Myoblast cultures have been established from each of these five biopsies. We compared results in skeletal muscle and in cultured myoblasts