" /> Charcot-marie-tooth disease, dominant intermediate g - CISMeF





Preferred Label : Charcot-marie-tooth disease, dominant intermediate g;

Symbol : CMTDIG;

CISMeF acronym : CMTDIG;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the neurofilament protein, light polypeptide gene (NEFL, 162280.0010);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #617882;

Details


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02/05/2025


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