Novel MPZ mutations and congenital hypomyelinating neuropathy

Hugh J. Mcmillan, Sandro Santagata, Frederic Shapiro, Sat Dev Batish, Libby Couchon, Stephen Donnelly, Peter B. Kang

Research output: Contribution to journalArticlepeer-review


We report two new MPZ mutations causing congenital hypomyelinating neuropathies; c.368_382delGCACGTTCACTTGTG (in-frame deletion of five amino acids) and c.392A > G, Asn131Ser. Each child had clinical and electrodiagnostic features consistent with an inherited neuropathy, confirmed by sural nerve biopsy. The cases illustrate the clinically heterogeneity that exists even within early-onset forms of this disease. They also lend additional support to the emerging clinical and laboratory evidence that impaired intracellular protein trafficking may represent the cause of some congenital hypomyelinating neuropathies.

Original languageEnglish (US)
Pages (from-to)725-729
Number of pages5
JournalNeuromuscular Disorders
Issue number11
StatePublished - Nov 2010
Externally publishedYes

Bibliographical note

Funding Information:
The authors thank Rebecca D. Folkerth, MD for her interpretation of the nerve biopsy results in Case 2. PBK is supported by: NINDS K08 NS048180. SS is supported by NIH 5K08NS064168.


  • Charcot-Marie-Tooth, type 1B
  • Genetic variation
  • Hereditary motor and sensory neuropathies
  • Myelin protein zero
  • Sequence homology


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