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PMID:10545037

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Citation

Lagueny, A, Latour, P, Vital, A, Rajabally, Y, Le Masson, G, Ferrer, X, Bernard, I, Julien, J, Vital, C and Vandenberghe, A (1999) Peripheral myelin modification in CMT1B correlates with MPZ gene mutations. Neuromuscul. Disord. 9:361-7

Abstract

Morphological modifications were investigated in the peripheral nerve of three unrelated patients with CMT1B. In two patients, molecular genetic analysis showed an Arg98His mutation in the extracellular domain of MPZ, associated with irregularly uncompacted lamellae. This observation confirms previous studies of a well-defined correlation between mutations and morphological phenotypes. In the third patient, a de novo Asp109Asn mutation was associated with abnormally thick myelin sheaths. This adds to the known list of MPZ gene mutations associated with this morphological phenotype.

Links

PubMed

Keywords

Adult; Amino Acid Substitution; Charcot-Marie-Tooth Disease/genetics; Charcot-Marie-Tooth Disease/pathology; Chromosome Mapping; Chromosomes, Human, Pair 17; Exons; Female; Humans; Male; Middle Aged; Muscle, Skeletal/innervation; Muscle, Skeletal/pathology; Myelin P0 Protein/genetics; Myelin Sheath/pathology; Nerve Fibers/pathology; Pedigree; Peripheral Nerves/pathology; Point Mutation; Polymorphism, Single-Stranded Conformational; Restriction Mapping

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:MYP0

involved_in

GO:0042552: myelination

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

Notes

See also

References

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