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Keywords: GDAP1
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Journal Articles
Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites
Open Access
Journal:
Biology Open
Biol Open (2023) 12 (4): bio059707.
Published: 3 April 2023
...Lara Cantarero; Gisela García-Vargas; Janet Hoenicka; Francesc Palau ABSTRACT GDAP1 pathogenic variants cause Charcot-Marie-Tooth (CMT) disease, the most common hereditary motor and sensory neuropathy. CMT- GDAP1 can be axonal or demyelinating, with autosomal dominant or recessive inheritance...