QuestionSBA
QuestionChoice
No, this is not the correct answer. Duchenne's muscular dystrophy occurs when there is a mutation in the dystrophin gene, which is inherited in an x-linked recessive fashion. The RyR1 gene is however associated with an increased susceptibility to malignant hyperthermia, which causes severe reactions to anaesthetics such as succinylcholine.
10007924
e
RyR1 (Ryanodine Receptor 1) gene and X-linked recessive
QuestionChoice
No, this is not the correct mode of inheritance.  Duchenne's muscular dystrophy occurs when there is a mutation in the dystrophin gene, which is inherited in an x-linked recessive fashion.
10007921
b
Dystrophin gene and autosomal recessive
QuestionChoice
Yes, this is the correct answer. Duchenne's muscular dystrophy occurs when there is a mutation in the dystrophin gene, which is inherited in an x-linked recessive fashion. The dystrophin protein is responsible for joining the sarcolemma to the actin microfibre. The absence of dystrophin leads to the excessive intake of calcium into striated muscle cells and subsequently into mitochondria. This leads to the transport of water into the cells and mitochondria by osmosis, and the subsequent bursting of mitochondria. Rhabdomyolysis can result, leading to the increase of creatinine kinase and myoglobin in the bloodstream.

Clinically, this presents as proximal muscle wasting and atrophy, that progresses to include more distal muscle groups and an increased level of disability as time goes on.
10007920
a
Dystrophin gene and X-linked recessive
QuestionChoice
No, this is not the correct answer. Duchenne's muscular dystrophy occurs when there is a mutation in the dystrophin gene, which is inherited in an x-linked recessive fashion. The TNNT2 gene is associated with familial cardiomyopathy.
10007923
d
TNNT2 (Troponin-T) gene and autosomal dominant
QuestionChoice
No this is not the correct answer. Duchenne's muscular dystrophy occurs when there is a mutation in the dystrophin gene, which is inherited in an x-linked recessive fashion. The RyR1 gene is however associated with an increased susceptibility to malignant hyperthermia, which causes severe reactions to anaesthetics such as succinylcholine.
10007922
c
RyR1 (Ryanodine Receptor 1) gene and autosomal dominant
Concept
Chapter
2693
4631
Duchenne Muscular Dystrophy
Topic
156
Medical Genetics
14131
A 3-year-old boy presents to the paediatric clinic, with concerns from his parents that he is 'always falling over'. He also has trouble with activities such as running and jumping.

A diagnosis of Duchenne's muscular dystrophy is suspected.

Which of the following best describes the implicated gene and inheritance pattern of this condition?
a