Linked Life Data

16437560

Source:http://linkedlifedata.com/resource/pubmed/id/16437560

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pubmed-article:16437560pubmed:abstractTextTo determine the clinical consequences of the PMP22 point mutation, T118M, which has been previously considered to either cause an autosomal recessive form of Charcot-Marie-Tooth (CMT) disease or be a benign polymorphism.lld:pubmed
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pubmed-article:16437560pubmed:articleTitleT118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.lld:pubmed
pubmed-article:16437560pubmed:affiliationDepartment of Neurology and Center for Molecular Medicine and Genetics, Wayne State University, Detroit, MI 48201, USA. m.shy@wayne.edulld:pubmed
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