This strategy applies to dysferlin genes containing a stop codon mutation. Imagine that you are traveling on the road that makes dysferlin protein.
The rate of progression of LGMD2B/Miyoshi is fairly slow compared to most other types of muscular dystrophy.
A single defective dysferlin gene cannot cause LGMD2B/Miyoshi. For the disease to occur, both copies of the dysferlin gene must be defective.
All of the muscle diseases associated with dysferlin deficiency have an autosomal recessive inheritance, so a person will only have symptoms if he/sh
Diagnosis is generally made based on the following information:
A genotype refers to the genetic characteristics of an organism. A phenotype refers to the physical characteristics.
Getting a dysferlin gene mutational analysis only requires a small blood sample from a patient.
The DNA that makes up the gene that encodes a protein sometimes has mistakes, called mutations, which cause defects in proteins.