A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy
Aya Inoue-Shibui, Tetsuya Niihori, Michio Kobayashi, Naoki Suzuki, Rumiko Izumi, Hitoshi Warita, Kenju Hara, Matsuyuki Shirota, Ryo Funayama, Keiko Nakayama, Ichizo Nishino, Masashi Aoki, Yoko Aoki
Topics & Concepts
Frameshift mutationValineGeneticsExome sequencingBiologyExonCompound heterozygosityIsoleucinePeptide sequenceProbandMyopathyAmino acidMolecular biologyMutationLeucineGeneHeat shock proteins researchHereditary Neurological DisordersFibromyalgia and Chronic Fatigue Syndrome Research