P687: A novel homozygous MYO9B splice-site variant in a family with Charcot–Marie–Tooth disease: Expanding the emerging gene–disease relationship

Genetics in Medicine Open 2026 Open access

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Authors: Arash Salmaninejad, Joseph D. Farris, Deepak Panwar, Danielle Schmidt, Judit Perez Ortiz, Laura Lambert, Filippo Pinto e Vairo, Karthik Muthusamy, Elizabeth Ann Mauricio, E. B. Klee
DOI: 10.1016/j.gimo.2026.104177
Cited by: 0

Abstract

The patient received supportive management including physiotherapy and occupational therapy. No gene-specific or experimental therapy was initiated. She continues to be followed by neurology and genetics for ongoing assessment and counseling.

Fields of Study & Subjects

Hereditary Neurological Disorders Genomics and Rare Diseases Muscle Physiology and Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104177–104177
Publication date
1 January 2026
Language
EN