Rare Genetic Mutations: Deciphering My Muscle Biopsy Results

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In summary, the individual has a muscle disorder and a muscle biopsy revealed a core myopathy, potentially caused by minicore disease. Genetic testing was done and found 3 rare heterozygous mutations in a single gene. It is unclear if these mutations are causing the disease, but the muscle biopsy would have been normal if they were not. The mutations have not been reported in literature before and have conflicting results regarding pathogenicity. A family study and genetic counseling are recommended, as this topic is not supported at this platform and requires a specialist in genetic diseases.
  • #1
I have a muscle disorder,My muscle biopsy revealed i have a core myopathy potentially remarkable for showing minicore disease and had to have genetic testing done to locate the mutation causing the core myopathy. The results of the genetic testing are quite... interesting. I was hoping you guys might be able to understand it and help me decode it to find out just how interesting it really is.
The genetic testing found 3 very rare heterozygous mutations which have never been reported in literature before all in a single gene. They are unsure if they are causing a disease however if they were not my muscle biopsy would have been normal is the way i see it?.
Mutation number 1: Heterozygous-TTN Gene- Sequence variant C.2605A>T (Predicated effect, P.thr869Ser) Public allele frequency data base as 5 out of 121,000 alleles indicating this mutation is rare. amino acid subsitution prediction programs provide conflicting results regarding pathogenicity.
Mutation number 2: Heterozygous- TTN Gene- sequence variant (C.14931A>C),(predicated effect, P.glu4977Asp), public allele frequency database as 12 of 120,000 alleles indicating is is rare. ammino acid substitution predictions programs provide conflicting results regarding pathogenicity.
Mutation Number 3: Heterozygous, TTN Gene, Sequence variant designated (c.88436C>T),(Predicated effect (p.Thr29479Met), public alle frequency database as 7 of 120,000 alleles indicating it is rare, Amino acid substitution predication programs predicit the change to be "DELETERIOUS".
A family study may help clarify the significance, such testing will be provided free of charge, genetic counseling is recommended.
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  • #3
This topic is something we cannot support here at PF. You need to see a specialist in genetic diseases. Thank you.

Related to Rare Genetic Mutations: Deciphering My Muscle Biopsy Results

1. What causes rare genetic mutations in muscle tissue?

Rare genetic mutations can be caused by a variety of factors, such as inherited genetic disorders, exposure to environmental toxins, or spontaneous mutations during fetal development. In some cases, the cause may be unknown.

2. How are rare genetic mutations detected in muscle tissue?

Rare genetic mutations can be detected through various methods, such as genetic testing or muscle biopsy. In a muscle biopsy, a small sample of muscle tissue is removed and examined under a microscope to look for any abnormalities or mutations.

3. Can rare genetic mutations be treated?

Currently, there is no specific treatment for rare genetic mutations. However, certain symptoms or complications may be managed through medication, physical therapy, or other supportive measures. Researchers are continually studying new treatments and therapies for rare genetic mutations.

4. Are rare genetic mutations hereditary?

In some cases, rare genetic mutations can be inherited from a parent who carries the mutated gene. However, some mutations can also occur spontaneously without any family history. It is important to consult with a genetic counselor to understand the inheritance pattern of a specific mutation.

5. How do rare genetic mutations affect muscle function?

Rare genetic mutations can affect muscle function in various ways, depending on the specific mutation. Some mutations may cause muscle weakness, atrophy, or degeneration, while others may result in abnormal muscle contractions or movements. The severity and type of muscle dysfunction can vary greatly among individuals with rare genetic mutations.

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