Often due to structual genes.
Many generations, both male and female, affected
Often pleiotropic. Family history crucial to diagnosis
25% of offspring from 2 carrier parents are affected.
Usually seen in only 1 generation
Autosomal recessive disorders are often due to a deficiency in what?
T/F - Autosomal recessive disorders are commonly more severe than autosomal dominant disorders.
Patients often present in childhood
Sons of heterozygous mothers have a 50% chance of being affected. No male-male transmission
In X-linked recessive disorders, females usually must be what to be affected?
Transmitte through both parents. Either male or female offspring of the affected mother may be affected, wheras ALL female offspring of the affected father are affected.
What X-linked dominant disorder is characterized by an INcrease wasting of Phosphate at the PROMIXAL tubule?
Transmitted only through mother. ALl offspring of affected females may show signs of disease.
Mitochondrial Inheritance is often due to failures in what?
How do Mitochondrial myophathies most often present?
Myopathy and CNS disease
What is seen in a muscle biopsy in a patient with mitochondrial myopathy?
"Ragged Red Fibers"