Neurobiology of Muscle

Question 1

Somite subdomains

Back Muscles from?

Body wall and limb muscles from?

Muscles of head from

Answer 1

Question 2

Floppy baby major symptoms

Answer 2

Question 3

Congenital Myopathy - difference from muscular dystrophies

Answer 3

Question 4

4 Classical Congenital myopathies

Answer 4

Question 5

Nemaline Myopathy Pathology

Answer 5

Question 6

Nemaline Myopathy Major finding on EM

Answer 6

Question 7

Nemaline Myopathy is a disease of?

Most comon molecule affected?

Answer 7

Question 8

Major Genes mutated in nemaline myopathy

Answer 8

Question 9

Muscuar Dystrophy

Major Histology features

Answer 9

Question 10

Muscular Dystrophy - muscle tissue replaced by?

Answer 10

Question 11

Duchenne Muscular Dystrophy - epidemiology

Answer 11

Question 12

Duchenne Muscular Dystrophy symptoms

elevated levels of

Answer 12

Question 13

Gower’s Maneuver

caused by major weakness in what motion

Answer 13

Question 14

Duchenne Muscular Dystrophy - Trendelenburg sign

Answer 14

Question 15

3 Late complications of DMD

Answer 15

Question 16

Becker Muscular Dystrophy

Major clinical finding

Answer 16

Question 17

How does dystrophin affect IQ

What common delay in DMD boys

Answer 17

Question 18

Which length Dystrophin prevents muscular dystrophy

Answer 18

Question 19

Dystrophin role in plasma membrane.

How many major binding sites?

Answer 19

Question 20

Duchenne Pathology - Revertant Fibers

Answer 20

Question 21

Duchenne Exon structure, major mutation mechanism

Answer 21

Question 22

DMD Reading Frame Model

Answer 22

Question 23

4 Major Treatment Option Groups for DMD

Answer 23

Question 24

Which Exon is skipped for frame restoration in many patients

Why does exon skipping help in disease symptoms

Answer 24

Question 25

What viector is used for gene therapy in DMD

Limitation of this therapy

Phenotypic effect

Answer 25

Question 26

Common Dystrophin associated protien disorder

also called limb-girdle muscular dystrophies

Answer 26

Question 27

Sarcoglycanopathies

Gender distribution?

Answer 27

Question 28

Facioscapulohumeral dystrophy

Epidemiology

Typical Weakness

Answer 28

Question 29

FSHD clinical Findings

2 major ones

Answer 29

Question 30

FSHD genetic cause

Answer 30

Question 31

Facioscapulohumeral dystrophy deletion size correlation with severity?

Answer 31

Question 32

Which allele on chromosoem 4qter is associated with FSHD

Answer 32

Question 33

2 Molecular consequences of FSHD mutation

Answer 33