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Neuropathy, hereditary motor and sensory, type 6A(HMSN6A)

MedGen UID:
987715
Concept ID:
CN305336
Disease or Syndrome
Synonyms: CHARCOT-MARIE-TOOTH DISEASE, TYPE 6A; HMSN VIA; HMSN6A; NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA; NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY
 
Gene (location): MFN2 (1p36.22)
 
Monarch Initiative: MONDO:0011002
OMIM®: 601152

Authors:

Additional description

From OMIM
Hereditary motor and sensory neuropathy type VI is an autosomal dominant neurologic disorder characterized by peripheral neuropathy and optic atrophy (summary by Voo et al., 2003). Genetic Heterogeneity of Hereditary Motor and Sensory Neuropathy Type VI See also HMSN6B (616505), caused by mutation in the SLC25A46 gene (610826) on chromosome 5q22, and HMSN6C (618511), caused by mutation in the PDXK gene (179020) on chromosome 21q22. For a general phenotypic description and a discussion of genetic heterogeneity of CMT, see CMT1B (118200).  http://www.omim.org/entry/601152

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