The 2016 version of the gene table of monogenic neuromuscular disorders (nuclear genome).
نویسندگان
چکیده
This table is published annually in theDecember issue. Its purpose is to provide the reader ofNeuromuscular Disorders with an updated list of monogenic muscle diseases due to a primary defect residing in the nuclear genome. It comprises diseases in which the causative gene is known or at least localized on a chromosome, if not yet identified. Diseases for which the locus has not been mapped or which are due to defects involving mitochondrial genes are not included.
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عنوان ژورنال:
- Neuromuscular disorders : NMD
دوره 23 12 شماره
صفحات -
تاریخ انتشار 2012