Novel variants in mpv17, prx, gjb1, and sacs cause charcot-marie-tooth and spastic ataxia of charlevoix-saguenay type diseases

HIGHLIGHTS

• who: Qaiser Zaman and colleagues from the Department of Zoology, Government Postgraduate College Dargai, Malakand, Pakistan Department of Zoology, Abdul Wali University, Mardan, Pakistan Research), Partner Site Hamburg/Lu00fcbeck/Kiel, and University Heart Centre Lu00fcbeck, Lu00fcbeck, Germany have published the paper: Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases, in the Journal: (JOURNAL) of 10/01/2023
• what: The authors have reported two variants in SACS.
• how: The pedigrees construction and analysis were conducted in light of standard protocol .

 

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