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A Patient with neurofibromatosis type 1 and Charcot–Marie–Tooth disease type 1B
Author(s) -
Lancaster Eric,
Elman Lauren B.,
Scherer Steven S.
Publication year - 2010
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21546
Subject(s) - tooth disease , neurofibromatosis , neurofibromatosis type 2 , medicine , disease , neurofibromatosis type i , genetics , dermatology , pathology , biology
We describe a patient with both neurofibromatosis type 1 and Charcot–Marie–Tooth disease type 1B. Although one might expect an overwhelming tumor burden due to the combination of these two disorders, the two mutations did not appear to interact. Muscle Nerve 41: 555–558, 2010