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Flashcards in 27 genes Deck (10)
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1

Duplication of chr. 17 region with PMP22 gene (peripheral myelin protein).

Hereditary motor and sensory neuropathies/Charcot-Marie-Tooth Disease (CMT) : CMT1

2

GJB1 mutation = connexin32 = gap jct in Schwann cells

Hereditary motor and sensory neuropathies/Charcot-Marie-Tooth Disease (CMT) : CMTX

3

PMP22

Hereditary Neuropathy with Pressure Palsy

4

Germline mutation of transthyretin gene

Familial Amyloid Polyneuropathies

5

ε-subunit of AchR LOF mutation.

Congenital Myasthenic Syndromes

6

Mutation of one of three collagen VIα genes

Ullrich Congenital MD (UCMD)

7

LOF dystrophin

X-linked Muscular Dystrophy (Duchenne & Becker MD)

8

 X-linked: EMD1.
 Autosomal: EMD2.

Emery-dreifuss Muscular Dystrophy (EMD)

9

DUX4 SNPs.

Fascioscapulohumeral Dystrophy

10

SMN1

Spinal Muscular Atrophy