Novel MPZ mutations and congenital hypomyelinating neuropathy.
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.
McMillan
Hugh J
HJ
Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, United States.
Santagata
Sandro
S
Shapiro
Frederic
F
Batish
Sat Dev
SD
Couchon
Libby
L
Donnelly
Stephen
S
Kang
Peter B
PB
D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D002675:Child, Preschool; D004568:Electrodiagnosis; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D018993:Myelin P0 Protein / Q000235:genetics*; D009431:Neural Conduction / Q000502:physiology; D013497:Sural Nerve / Q000473:pathology* / Q000503:physiopathology
D018993:Myelin P0 Protein