HMB360H1 Study Guide - Midterm Guide: Dystrophin, Muscle Biopsy, Nonsense Mutation

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16 Jul 2018
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Has a known genetic cause (unlike parkinson"s, most cases of alzhei(cid:373)er"s, ms) All forms of md are genetically inherited or de novo mutations, x-linked (due to change in a gene at known location) Inherited md can occur (1) in childhood (duchenne"s) and (2) in adulthood; childhood md is more severe. Crispr is now about rna editing (not as often genome editing) 3d cultures to form organoids and study those big in research nowadays. Md symptoms: md results in classical sarcopenia = severe muscle mass loss, md can affect select muscle groups, result in different types of md, muscle loss loss of trophic factors released from muscles. Md subtypes (1) different presentation/symptoms (2) onset (3) genes affected, up to 20 types)** Beck"s/becker"s md (bmd) later onset than dmd: duche(cid:374)(cid:374)e"s md (dmd) early onset, myoto(cid:374)ic/stei(cid:374)ert"s md adult onset, face and neck muscles affected. Facioscapulohumeral (fshd) teenager-adult onset, face and shoulder muscles affected.

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