Projects per year
Abstract
Rare pathogenic variants in TOR1AIP1 (OMIM 614512), coding the inner nuclear membrane protein lamin-associated protein 1 (LAP1), have been associated with a spectrum of disorders including limb girdle muscular dystrophy with cardiac involvement and a severe multisystem phenotype. Recently, Cossins et al reported two siblings with limb girdle muscular dystrophy and impaired transmission of the neuromuscular synapse, demonstrating that defective LAP1 may lead to a congenital myasthenic syndrome. Herein, we describe the association of TOR1AIP1 deficiency with congenital myasthenic syndrome in three siblings.
Original language | English |
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Article number | e12743 |
Journal | Neuropathology and Applied Neurobiology |
Volume | 48 |
Issue number | 1 |
Early online date | 2022 |
DOIs | |
Publication status | Published - Feb 2022 |
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Dive into the research topics of 'A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia—Support for the role of LAP1 in NMJ function and disease'. Together they form a unique fingerprint.Projects
- 2 Finished
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Novel genomic approaches to identify the missing genetics underlying skeletal muscle disease
Ravenscroft, G. (Investigator 01) & Laing, N. (Investigator 04)
NHMRC National Health and Medical Research Council
11/01/21 → 31/12/23
Project: Research
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Gene discovery and pathobiology in muscle diseases
Ravenscroft, G. (Investigator 01)
NHMRC National Health and Medical Research Council
1/01/17 → 31/07/22
Project: Research