Amish, Mennonite, and Hutterite
Genetic Disorder Database

Charcot-Marie-Tooth Disease, Type 4A

Disorder
OMIM #: #214400  (Click to access OMIM database)
Disorder: Charcot-Marie-Tooth Disease, Type 4A 
Also known as: CMT4A, CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4A 
Clinical
Phenotype: Age at onset is from infancy to early childhood, peripheral neuropathy, muscle wasting, disability within the first and second decade of life, vocal cord paresis (hoarse voice), proximal muscle involvement in later disease 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: GDAP1, E5 region
Base Change: c.692C>T
Amino Acid Change: p.P231L
Last updated: 2012-12-17 

References
Beighton PH. (1971) Recessively inherited Charcot-Marie-Tooth syndrome in identical twins. Birth Defects Orig Artic Ser 7(2): 105.
PubMed ID: 5173114 
Xin B, Puffenberger E, Nye L, Wiznitzer M, Wang H. (2008) A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family. Clin Genet 74(3):274-8..
PubMed ID: 18492089 

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