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Myotubular Myopathy Rottweiler Type (MTM)
| Acronym: | MTM |
| Gene: | MTM1 |
| Mutation: | c.1151A>C |
| Inheritance: | X linked |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Myotubular Myopathy is an inherited muscle disease affecting dogs. Affected puppies are typically normal at birth, but between 7 to 13 weeks of age, they start showing muscle weakness, decreased muscle mass, and exercise intolerance. Affected puppies have difficulty standing and holding their head up and their whiskers may be bent or crinkled. The progress of the disease is rapid and within 4 weeks of initial presentation, it goes from generalized muscle weakness to complete inability to stand or even raise their heads. Dogs that are able to stand have an arched back and neck.
The disease is X-linked recessive which means female dogs have to have both affected X-chromosomes to develop the disease. Heterozygous females are carriers but do not develop the disease while male carriers develop it.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (female) or hemizygous state (male) (i.e. only healthy allele on X chromosome). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has mutated allele in homozygous state (female) or hemizygous state (male) (i.e. only mutated allele on X chromosome). It is likely the animal will experience a genetic disorder due to this mutation.**It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Penetrance of tested mutation, and potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Shelton GD, Rider BE, Child G, Tzannes S, Guo LT, Moghadaszadeh B, Troiano EC, Haase B, Wade CM, Beggs AH. X-vezana miotubularna miopatija u pasa Rottweilera uzrokovana je missense mutacijom u eksonu 11 gena MTM1. Skeletni mišić. 2015. 27. siječnja; 5 (1): 1. [PubMed: 25664165]