Mitochondrial Myapathy Confusion

Hello,My sister was told she has mitochondrial myapathy with multi deletion ,thru biopiosy,I also had 1 done last year,but they said mine was negative,but yet i have almost the same exact symptoms and problems as my younger sister and now my older sister has been having similar problems as both of us.My younger sister was told by her 2 neurologist that it's impossible that myself and loder sister cannot also have this as it's genetic,Im Very confused following the same path but was told my test showed negative????

[DrNavneetMD]

Hello Dear,
Mitochondrial myopathies can be inherited (passed from parent to child) and the genetic error (mutation) can affect either the mitochondrial DNA or the genes found in the nucleus. Mitochondrial myopathy is a collective term for a group of diseases that particularly affect muscle, but which may also affect every other part of the body including the brain and the eye. On examination certain things may raise the possibility of a mitochondrial myopathy, for example droopy eyelids (ptosis), or difficulty moving the eyes (ophthalmoplegia)etc. A blood test may show a raised lactic acid level. The final diagnosis often depends on taking a muscle biopsy.As your test is negative,you need not worry,but you have to be cautious as it may be genetic.
Best

[James Axe]

Thank You,I've had problems with weight loss almost 30 lbs.dizzy spells,Loss of balance,severe fatique,problems at times walking to far,X-ray show arteries in right side of heart enlarged possible due to chronic pulmonary arterial hypertension, mildly abnormal septal motion versus hypokinesis of the septum I also suffer from memory problems,some times weird black outs,some pain in some of my joints ,Bowel loops in Pelvis and 1  that came up under my Diaphragm and results in attenuation of the inferior myocardial segment what ever that means?On blood work myoglb-78.0  IGF-I-273  PLT/CNT-367-393-398-446  E.S.R.-22  Baso-1.3 1.4 1.9 and 10 of 17 Blood sugar tests 203-131-161-182-118-189-172-155-149 and C-ANCA- 39  also P-ANCA-39 and TSH level 0.008 I dont have any idea of what all these blood test are for or if their showing any sort of problems that could be related to my problems I also had a High B-12 Level of 951 they also found soft tissue pushing into iginual cannel but not showing up as a hernia.Im totally confused