1. Chapter 18: Chromosome 18 18 A Cell Nucleus 149,131 2005 aa Cytoplasm
DNA Sequence
Chromosome
Name of Protein
structural maintenance
of chromosomes flexible
Hinge domain-containing
protein 1
149,131 18
Name of Gene
SMCHD1
transcription
Amino acid sequence
mRNA
2005 aa
translation
Cytoplasm
A Cell
Nucleus j
What does this protein make up or do?
structural maintenance of chromosomes
Condition/Disease
Facioscapulohumeral Muscualar dystrophy

2. Description of Facioscapulohumeral Muscular dystrophy (FSHD)
Symptoms and characteristics
FSHD is a disorder characterized by muscle weakness and wasting.
The symptoms are facial muscle weakness, shoulder weakness, hearing loss, abnormal heart rhythm. etc.
FSHD is detected with a molecular diagnosis
There is no known effective treatments that exist for FSHD.

3. Description of FSHD(cont.)
Who is affected?
People with a family history of FSHD
Outlook or quality of life
There is no treatment.

4. References