Muscle and nerve pathology in Dunnigan familial partial lipodystrophy

• Published in: Neurology Vol. 68; no. 9; p. 677
• Main Authors: Spuler, S, Kalbhenn, T, Zabojszcza, J, van Landeghem, F K H, Ludtke, A, Wenzel, K, Koehnlein, M, Schuelke, M, Lüdemann, L, Schmidt, H H
• Format: Journal Article
• Language: English
• Published: United States 27.02.2007
• Subjects: Adult; Female; Humans; Lipodystrophy, Familial Partial - pathology; Lipodystrophy, Familial Partial - physiopathology; Male; Muscle, Skeletal - pathology; Muscle, Skeletal - physiopathology; Muscular Diseases - pathology; Muscular Diseases - physiopathology; Myostatin; Peripheral Nervous System Diseases - pathology; Peripheral Nervous System Diseases - physiopathology; Smad Proteins - metabolism; Sural Nerve - pathology; Sural Nerve - physiopathology; Transforming Growth Factor beta - metabolism

To characterize muscle and nerve pathology in Dunnigan familial partial lipodystrophy (FPLD). We used conventional histology, immunohistochemistry, messenger RNA (mRNA) expression, gene sequencing, and clinical studies of 13 patients with neuromuscular involvement. The clinical findings consisted of...