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Article

A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings.

Genes - 19 Jul 2020

Shchagina Olga, Bessonova Ludmila, Bychkov Igor, Beskorovainaya Tatiana, Poliakov Aleksander

Abstract excerpt

Congenital myasthenic syndrome-22 (CMS22, OMIM 616224) is a very rare recessive hereditary disorder. At the moment, ten CMS22 patients are described, with the disorder caused by nine different Loss-of-Function mutations and 14 gross deletions in the PREPL gene. The materials for our study were DNA samples of five family members: two patients with myasthenia, their healthy sibling and parents. Clinical exome...

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Identifiers

PMID: 32707643
DOI: 10.3390/genes11070821
PMCID: PMC7397044

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