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Abnormal CCND1 expression is found in the majority of mantle ter (MTC), also called the BCL1 locus is involved in approxicell lymphomas (MCL) and in a minority of other mature B cell mately 40% of t(11;14) positive MCL, whereas breakpoints malignancies. Its evaluation can therefore aid diagnostic classiwithin mTC1 (approximately 20 kb telomeric to the MTC) and fication, in conjunction with clinical, morphological, immunomTC2 (immediately centromeric/5′ to CCND1) occur less frephenotypic and cytogenetic analysis. We describe a rapid slotquently. 6 Regardless of the precise breakpoint, the translo-

The authors present a child affected with diaphragmatic paralysis in the early neonatal period. Although no electroneuromyographic abnormalities were reported, the patient developed dramatic motor and respiratory impairment with impossibility to wean from mechanical ventilation. Repeated electroneuromyographic study at age 4 months revealed severe neurogenic changes and sensory nerve abnormalities with more preserved nerve conduction velocities. Genetic studies identified 2 mutations in the gene IGHMBP2. These results support the consideration of this entity as a form of sensory-motor rapidly progressive polyneuropathy rather than a primary anterior horn disease (IGHMBP2-related neuropathy). A review of the series of mutated patients in the French National Database gives new insights of the incidence of this disease in France.