(1) Depositions Upon Consent of Parties: The deposition of an expert witness upon consent of all the parties to a case shall be governed by Rule 74 rather than this Rule, except that the provisions of paragraph (e) of this Rule shall apply to such a deposition.
Lysosomal storage diseases are caused by the accumulation of macromolecules (proteins, polysaccharides, lipids) in the lysosomes because of a genetic failure to manufacture an enzyme needed for their breakdown.
1 Duplications: A portion of the chromosome is duplicated, resulting in extra genetic material. 2  Known disorders include Charcot-Marie-Tooth disease type 1A which may be caused by duplication of the gene encoding peripheral myelin protein 22 (PMP22) on chromosome 17. Deletions: A portion of the chromosome is missing or deleted. 2  Known disorders include Wolf-Hirschhorn syndrome, which is caused by partial deletion of the short arm of chromosome 4; and Jacobsen syndrome, also called the terminal 11q deletion disorder.