P40 Autosomal dominant centronuclear myopathy caused by a heterozygous stop-mutation in BIN1 – A case report

Autor:	T. Dyong, Jörg B. Schulz, Maike F. Dohrn, Joachim Weis, Burkhard Gess, Katja Eggermann, I. Kurth
Rok vydání:	2020
Předmět:	Genetics Neurology Physiology (medical) Mutation (genetic algorithm) Neurology (clinical) Biology Autosomal dominant centronuclear myopathy Sensory Systems
Zdroj:	Clinical Neurophysiology. 131:e199
ISSN:	1388-2457
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::32442dd784793f7ae95fd2e6ae48495e https://doi.org/10.1016/j.clinph.2019.12.046 Zobrazit plný text záznamu Full Text from ScienceDirect