Microscopic and Biochemical Hallmarks of BICD2 -Associated Muscle Pathology toward the Evaluation of Novel Variants

• Published in: International journal of molecular sciences Vol. 24; no. 7; p. 6808
• Main Authors: Unger, Andreas, Roos, Andreas, Gangfuß, Andrea, Hentschel, Andreas, Gläser, Dieter, Krause, Karsten, Doering, Kristina, Schara-Schmidt, Ulrike, Hoffjan, Sabine, Vorgerd, Matthias, Güttsches, Anne-Katrin
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 06.04.2023; MDPI
• Subjects: Atrophy; BICD2; biglycan; Biglycan - metabolism; Biopsy; Electron microscopy; endoplasmic/sarcoplasmic reticulum; Fluorescence; Fluorescence microscopy; Golgi pathology; Hereditary spastic paraplegia; Histology; Humans; Legs; Localization; Microscopy; Microtubule-Associated Proteins - metabolism; muscle proteomics; Muscle, Skeletal - metabolism; Muscles; Muscular Atrophy, Spinal - genetics; Musculoskeletal system; Mutation; Neurological diseases; Neuromuscular diseases; Paraplegics; Paresis; Pathogenicity; Pathology; Patients; Proteins; Proteomics; Skeletal muscle; Spinal muscular atrophy; Thrombospondin; thrombospondin-4; Golgi pathology; muscle proteomics; biglycan; endoplasmic/sarcoplasmic reticulum; BICD2; thrombospondin-4

variants have been linked to neurodegenerative disorders like spinal muscular atrophy with lower extremity predominance (SMALED2) or hereditary spastic paraplegia (HSP). Recently, mutations in were implicated in myopathies. Here, we present one patient with a known and six patients with novel missen...