Muscle weakness in Barth syndrome

Muscle weakness in Barth syndrome is a clinical manifestation of the underlying skeletal myopathy that characteristically affects hemizygous males with this rare, X-linked mitochondrial condition Clinically, affected individuals typically demonstrate generalized hypotonia from infancy, reduced muscle bulk, and predominantly proximal muscle weakness

Muscle weakness in Barth syndrome is a clinical manifestation of the underlying skeletal myopathy that characteristically affects hemizygous males with this rare, X-linked mitochondrial condition

Pathophysiologically, it stems from pathogenic variants in the *TAFAZZIN* gene, which disrupt cardiolipin remodeling in the inner mitochondrial membrane, impairing cellular respiratory chain function and skeletal muscle bioenergetics

Pathophysiologically, it stems from pathogenic variants in the *TAFAZZIN* gene, which disrupt cardiolipin remodeling in the inner mitochondrial membrane, impairing cellular respiratory chain function and skeletal muscle bioenergetics

Clinically, affected individuals typically demonstrate generalized hypotonia from infancy, reduced muscle bulk, and predominantly proximal muscle weakness This impairment contributes to delayed early motor milestone achievement, diminished physical stamina, and severe exercise intolerance that persists into adulthood

Clinically, affected individuals typically demonstrate generalized hypotonia from infancy, reduced muscle bulk, and predominantly proximal muscle weakness This impairment contributes to delayed early motor milestone achievement, diminished physical stamina, and severe exercise intolerance that persists into adulthood

This impairment contributes to delayed early motor milestone achievement, diminished physical stamina, and severe exercise intolerance that persists into adulthood