Hypotonia and Mitochondria
mb11329 at medtronic.COM
Fri Jan 14 14:15:29 EST 1994
I am a mother of a 1 year old who was born with
hypotonia (low muscle tone). To date we do not
have a diagnosis after many diagnostic tests, including
metabolic, MRI's, and muscle and skin biopsy. The
only thing that has been abnormal is the thicker shape
of her mitochondria. However, when biochemical studies
were run on the tissue, her enzyme levels were normal.
A DNA study was also done which was normal.
I am interested if anybody has done any research in
the mitochondria area and if they have any suggestions
for any myopathies that could be present or other diagnostic
tests that should be done to obtain a diagnosis. Or is
it possible that thicker mitochondria don't necessarily
mean anything is wrong?
Any help would be greatly appreciated,
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