HADHB mutations cause infantile-onset axonal Charcot-Marie-Tooth disease: A report of two cases.

This study broadens the phenotype of MTPD and suggests that the genetic testing of patients suffering from IACMT should include the HADHB gene.
. PMID: 29956646 [PubMed - as supplied by publisher]
Source: Clinical Neuropathology - Category: Pathology Authors: Tags: Clin Neuropathol Source Type: research