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Gene: MPV17

Green List (high evidence)

Charcot-Marie-Tooth disease type 2EE is an autosomal recessive sensorimotor peripheral axonal neuropathy. It primarily affects the lower limbs and is slowly progressive, sometimes resulting in loss of ambulation, with later onset of upper limb involvement. There is significant distal muscle weakness and atrophy, usually with foot or hand deformities. Skeletal muscle biopsy shows findings of disturbed mitochondrial maintenance. Cognition is unaffected, and chronic liver disease is absent.

Onset in the first or second decade of life, more than 5 unrelated families reported with the isolated CMT phenotype.

Mitochondrial DNA depletion syndrome-6 is infantile onset, characterized by infantile onset of progressive liver failure, often leading to death in the first year of life. Those that survive develop progressive neurologic involvement, including ataxia, hypotonia, dystonia, and psychomotor regression. The more severe disorder of MPV17.

Created: 30 Jan 2025, 8:55 p.m. | Last Modified: 30 Jan 2025, 8:55 p.m.

Panel Version: 1.1367

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2EE, MIM#618400; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM#256810

Publications

• 22508010
• 26437932
• 30298599