Test Requested:
ExomeMit - Clinical Exome & Whole Mitochondrial genome sequencing
CLINICAL DIAGNOSIS /SYMPTOMS /HISTORY
Mr. Nisit Goswami, born of a non-consanguineous marriage, presented with clinical indications of peripheral hypotonia,distal muscle weakness, pes cavus positive since 19-20 years of age. His elder sister is having bilateral foot weakness(distal), pure motor weakness and difficulty walking. Mr. Nisit Goswami is suspected to be affected with Charcot Marie tooth disease and has been evaluated for pathogenic gene variations.
RESULTS
Answers (3)
Get your queries answered instantly with Care AI
FREE
Disclaimer : The content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding your medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
Disclaimer : The content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding your medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
Bone and Muscle
Reasons for flagging
Hateful or abusive contentSpam or misleadingAdvertisement