Impaired Muscle Mitochondrial Function in Familial Partial Lipodystrophy.
Vinaya SimhaIan R LanzaSurendra DasariKatherine A KlausNathan Le BrasseurIvan VuckovicMarcello C LaurentiClaudio CobelliJohn D PortK Sreekumaran NairPublished in: The Journal of clinical endocrinology and metabolism (2021)
Increased muscularity in FPL is not due to increased muscle protein synthesis and is likely due to reduced muscle protein degradation. Impaired mitochondrial function and altered gene expression likely explain the metabolic abnormalities and skeletal muscle dysfunction in FPL subjects.