The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C.
Humberto SkottCristina Muntean-FiranescuKristin SamuelssonLuca VerrecchiaPer SvenningssonHelena MalmgrenCarmen CananauAlberto J EspayRayomand PressGöran SoldersMartin PaucarPublished in: Cerebellum & ataxias (2019)
CMTC4A may present with a cerebellar phenotype and mimic a flaccid-ataxic form of FRDA. Absence of cardiomyopathy or endocrine abnormalities and lack of pathological dentate iron accumulation in CMT4C distinguish it from FRDA.
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