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Article

Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C-terminal amino acid sequence.

American journal of medical genetics. Part A - 1 Jul 2020

Maselli Ricardo A, van der Linden Hélio, Ferns Michael

Abstract excerpt

Defects in the gene encoding synaptotagmin 2 (SYT2) have been linked to a presynaptic congenital myasthenic syndrome (CMS) and motor neuropathies. However, to date only dominant forms of the disease have been described. We report here a consanguineous patient with a severe recessive form of presynaptic CMS and denervation atrophy caused by the homozygous mutation c.1191delG, p.Arg397Serfs*37 in SYT2. The affected...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Myasthenia Gravis and Thymoma

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Identifiers

PMID: 32250532
DOI: 10.1002/ajmg.a.61579

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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