Zebrafish model for congenital myasthenic syndrome reveals mechanisms causal to developmental recovery
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چکیده
منابع مشابه
A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions.
In the muscle-specific tyrosine kinase receptor gene MUSK, a heteroallelic missense and a null mutation were identified in a patient suffering from a congenital myasthenic syndrome (CMS). We generated one mouse line carrying the homozygous missense mutation V789M in musk (musk(V789M/V789M) mice) and a second hemizygous line, resembling the patient genotype, with the V789M mutation on one allele...
متن کاملA valid mouse model of AGRIN-associated congenital myasthenic syndrome.
Congenital myasthenic syndromes (CMS) are inherited diseases affecting the neuromuscular junction (NMJ). Mutations in AGRIN (AGRN) and other genes in the AGRIN signaling pathway cause CMS, and gene targeting studies in mice confirm the importance of this pathway for NMJ formation. However, these mouse mutations are complete loss-of-function alleles that result in an embryonic failure of NMJ for...
متن کاملGenetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes.
Congenital myasthenic syndromes (CMS) are a rare heterogeneous group of inherited neuromuscular disorders associated with distinctive clinical, electrophysiological, ultrastructural and genetic abnormalities. These genetic defects either impair neuromuscular transmission directly or result in secondary impairments, which eventually compromise the safety margin of neuromuscular transmission. In ...
متن کاملCongenital myasthenic syndromes.
Congenital myasthenic syndromes are a rare group of heterogeneous disorders affecting neuromuscular transmission. Recent identification and in-vitro functional analysis of some of the genetic mutations that cause these disorders correlates with previous electrophysiological, biochemical, pathological and therapeutic studies, and has advanced our understanding of neuromuscular transmission.
متن کاملCongenital myasthenic syndromes.
PURPOSE OF REVIEW Congenital myasthenic syndromes are a heterogeneous group of diseases caused by genetic defects affecting neuromuscular transmission. In this article, a strategy that leads to the diagnosis of congenital myasthenic syndromes is presented, and recent advances in the clinical, genetic and molecular aspects of congenital myasthenic syndrome are outlined. RECENT FINDINGS Besides...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 2012
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.1215858109