A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia-Support for the role of LAP1 in NMJ function and disease.
Neuropathol Appl Neurobiol
; 48(1): e12743, 2022 02.
Article
em En
| MEDLINE
| ID: mdl-34164833
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndromes Miastênicas Congênitas
/
Distrofia Muscular do Cíngulo dos Membros
Limite:
Humans
Idioma:
En
Revista:
Neuropathol Appl Neurobiol
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
França