The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
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ABSTRACT:
SUBMITTER: Deneubourg C
PROVIDER: S-EPMC9037555 | biostudies-literature | 2022 Mar
REPOSITORIES: biostudies-literature
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The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Deneubourg Celine C Ramm Mauricio M Smith Luke J LJ Baron Olga O Singh Kritarth K Byrne Susan C SC Duchen Michael R MR Gautel Mathias M Eskelinen Eeva-Liisa EL Fanto Manolis M Jungbluth Heinz H
Autophagy 20210819 3
Primary dysfunction of autophagy due to Mendelian defects affecting core components of the autophagy machinery or closely related proteins have recently emerged as an important cause of genetic disease. This novel group of human disorders may present throughout life and comprises severe early-onset neurodevelopmental and more common adult-onset neurodegenerative disorders. Early-onset (or congenital) disorders of autophagy often share a recognizable "clinical signature," including variable combi ...[more]
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