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

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.

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

References http://www.muscular-dystrophy.org/about_muscular_dystrophy/conditions/99_facioscapulohumeral_muscular_dystrophy_fs http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2628543/