Format

Send to

Choose Destination
See comment in PubMed Commons below
Muscle Nerve. 2012 Jan;45(1):135-8. doi: 10.1002/mus.22201.

A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype.

Author information

1
Neuromuscular Unit, Neurology Department, Hospital Universitari de Bellvitge, c/ Feixa Llarga s/n, 08907 L'Hospitalet de Llobregat, Barcelona, Spain. carloscasasnovas@bellvitgehospital.cat

Abstract

INTRODUCTION:

In this study we examined a family with electrophysiological findings of hereditary neuropathy with liability to pressure palsies (HNPP) and a mild clinical presentation.

METHODS:

Four members of a family were referred for diagnosis of HNPP. Electrophysiological studies included motor and sensory nerve conduction studies in the upper and lower extremities. Investigations of microsatellites, using polymorphic repeat markers flanking the gene, and multiplex ligation-dependent probe amplification (MLPA) were performed for molecular studies.

RESULTS:

The initial study of microsatellites did not detect any change, but MLPA demonstrated a small deletion of exon 5 in the PMP22 gene.

CONCLUSION:

Our findings demonstrate the important role of small deletions in the PMP22 gene in the etiology of HNPP with a normal microsatellite study.

PMID:
22190321
DOI:
10.1002/mus.22201
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Loading ...
    Support Center