Novel C59T leader peptide mutation in the MPZ gene associated with late-onset, axonal, sensorimotor polyneuropathy

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Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.

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Q36226776-CF8C01E0-8B8A-44A4-B3C2-596879B847B8

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Novel C59T leader peptide mutation in the MPZ gene associated with late-onset, axonal, sensorimotor polyneuropathy

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http://www.wikidata.org/entity/Q57637003

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wetenschappelijk artikel

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наукова стаття, опублікована в жовтні 2006

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Novel C59T leader peptide muta ...... l, sensorimotor polyneuropathy

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Novel C59T leader peptide muta ...... l, sensorimotor polyneuropathy

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Novel C59T leader peptide muta ...... l, sensorimotor polyneuropathy

@en

Novel C59T leader peptide muta ...... l, sensorimotor polyneuropathy

@nl

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Novel C59T leader peptide muta ...... l, sensorimotor polyneuropathy

@en

Novel C59T leader peptide muta ...... l, sensorimotor polyneuropathy

@nl

P1476

Novel C59T leader peptide muta ...... l, sensorimotor polyneuropathy

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G. Miltenberger

http://www.w3.org/2001/XMLSchema#string

H. Rauschka

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J. Finsterer

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An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).

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Phenotypic clustering in MPZ mutations.

Benign autosomal dominant syndrome of neuronal Charcot-Marie-Tooth disease, ptosis, parkinsonism, and dementia.

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B.

Pathology and physiology of auditory neuropathy with a novel mutation in the MPZ gene (Tyr145->Ser).

Clinical and genetic description of a family with Charcot-Marie-Tooth disease type 1B from a transmembrane MPZ mutation.

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1149-1152

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scholarly article

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10.1111/J.1468-1331.2006.01479.X

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Andreas Janecke

P577

2006-10-01T00:00:00Z

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16987171

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Novel C59T leader peptide mutation in the MPZ gene associated with late-onset, axonal, sensorimotor polyneuropathy

about

P2860

P2860

Novel C59T leader peptide mutation in the MPZ gene associated with late-onset, axonal, sensorimotor polyneuropathy

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698