27 genes

Question 1

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

Answer 1

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

Question 2

GJB1 mutation = connexin32 = gap jct in Schwann cells

Answer 2

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

Question 3

PMP22

Answer 3

Hereditary Neuropathy with Pressure Palsy

Question 4

Germline mutation of transthyretin gene

Answer 4

Familial Amyloid Polyneuropathies

Question 5

ε-subunit of AchR LOF mutation.

Answer 5

Congenital Myasthenic Syndromes

Question 6

Mutation of one of three collagen VIα genes

Answer 6

Ullrich Congenital MD (UCMD)

Question 7

LOF dystrophin

Answer 7

X-linked Muscular Dystrophy (Duchenne & Becker MD)

Question 8

 X-linked: EMD1.

 Autosomal: EMD2.

Answer 8

Emery-dreifuss Muscular Dystrophy (EMD)

Question 9

DUX4 SNPs.

Answer 9

Fascioscapulohumeral Dystrophy

Question 10

SMN1

Answer 10

Spinal Muscular Atrophy