Mitochondrial abnormalities in Charcot-Marie-Tooth disease: insights from a family harbouring a novel GDAP1 variant.
Shivani Sharma, Madhu Nagappa, Gayathri Narayanappa et al.
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From the abstract
Charcot-Marie-Tooth disease is an inherited peripheral neuropathy marked by progressive loss of motor and sensory function. GDAP1 mutations are implicated in Charcot-Marie-Tooth disease, but the precise mechanism is not fully understood.