Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report

Keyphrases

• Novel mutation 100%
• Charcot-Marie-Tooth 100%
• Tooth Type 100%
• Myotubularin-related Proteins 100%
• Early Onset 25%
• Clinical Presentation 25%
• Whole Exome Sequencing 25%
• Autosomal Recessive 25%
• Consanguineous 25%
• Frameshift 25%
• Neuropathy 25%
• Rare Diseases 25%
• Kindred 25%
• Skeletal Deformities 25%
• Insertion mutation 25%
• Hypotonia 25%
• Truncated Protein 25%
• Demyelinating Neuropathy 25%
• Motor Neuropathy 25%
• Sensory Neuropathy 25%
• Areflexia 25%
• Muscle Tone 25%
• Dysmetria 25%
• Concise Report 25%
• Action Tremor 25%

Medicine and Dentistry

• Disease 100%
• Autosomal Recessive Inheritance 50%
• Neuropathy 50%
• Rare Disease 50%
• Skeleton Malformation 50%
• Hypotonia 50%
• Exome Sequencing 50%
• Demyelinating Neuropathy 50%
• Muscle Tone 50%
• Multifocal Motor Neuropathy 50%
• Sensory Neuropathy 50%
• Areflexia 50%
• Dysmetria 50%