A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy

Heat shock protein family B member 8, encoded by HSPB8, is an essential component of the chaperone-assisted selective autophagy complex, which maintains muscle function by degrading damaged proteins in the cells. Mutations in HSPB8 have been reported to cause Charcot-Marie-Tooth type 2L, distal here...

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Veröffentlicht in:	Journal of human genetics 2021-10, Vol.66 (10), p.965-972
Hauptverfasser:	Inoue-Shibui, Aya, Niihori, Tetsuya, Kobayashi, Michio, Suzuki, Naoki, Izumi, Rumiko, Warita, Hitoshi, Hara, Kenju, Shirota, Matsuyuki, Funayama, Ryo, Nakayama, Keiko, Nishino, Ichizo, Aoki, Masashi, Aoki, Yoko
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Atrophy Autophagy Charcot-Marie-Tooth disease Distal Myopathies - diagnosis Distal Myopathies - genetics Distal Myopathies - pathology Female Frameshift mutation Gene Deletion Genetic Predisposition to Disease Heat shock proteins Heat-Shock Proteins - genetics Heterozygote Humans Isoleucine Male Middle Aged Molecular Chaperones - genetics Muscles Muscular Atrophy - diagnosis Muscular Atrophy - genetics Muscular Atrophy - pathology Mutation Myopathy Neural coding Neuropathy Paraspinal Muscles - pathology Phagocytosis Proteins Respiratory failure Small heat shock proteins Valine Whole Exome Sequencing
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