Charcot-Marie-Tooth disease is a demyelinating neuropathy characterised by distal muscle weakness and severe sensory loss. Patients affected by the subtype 4B1 are found to have focally folded myelin sheaths.
Charcot-Marie-Tooth disease is a demyelinating neuropathy characterised by distal muscle weakness and severe sensory loss. Patients affected by the subtype 4B1 are found to have focally folded myelin sheaths.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 601382.1.1 | Algeria | Male | Yes | Yes | Stridor; Distal amyotrophy; Proximal a... Stridor; Distal amyotrophy; Proximal amyotrophy; Distal muscle weakness; Abnormal rib cage morphology; Talipes equinovarus; Split hand; Steppage gait; Somatic sensory dysfunction; Vocal cord paresis  | NM_016156.5:c.331dupA | Homozygous | Recessive | Nouioua et al. 2011 | |
| 601382.1.2 | Algeria | Male | Yes | Yes | Stridor; Distal amyotrophy; Proximal... Stridor; Distal amyotrophy; Proximal amyotrophy; Distal muscle weakness; Proximal muscle weakness; Abnormal rib cage morphology; Split hand; Steppage gait; Vocal cord paresis | NM_016156.5:c.331dupA | Homozygous | Recessive | Nouioua et al. 2011 | Brother of 601382.1.... |
| 601382.1.3 | Algeria | Male | Yes | Yes | Stridor; Distal amyotrophy; Proxim... Stridor; Distal amyotrophy; Proximal amyotrophy; Distal muscle weakness; Proximal muscle weakness; Abnormal rib cage morphology; Talipes equinovarus; Split hand; Steppage gait; Vocal cord paresis | NM_016156.5:c.331dupA | Homozygous | Recessive | Nouioua et al. 2011 | Brother of 601382.1.... |