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Severe Charcot‐Marie‐Tooth neuropathy type 1A with 1‐base pair deletion and frameshift mutation in the peripheral myelin protein 22 gene
Author(s) -
Ionasescu Victor V.,
Searby Charles C.,
Ionasescu Rebecca,
Reisin Ricardo,
Ruggieri Victor,
Arberas Claudia
Publication year - 1997
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/(sici)1097-4598(199710)20:10<1308::aid-mus14>3.0.co;2-z
Subject(s) - frameshift mutation , peripheral neuropathy , mutation , genetics , anatomy , exon , medicine , biology , gene , endocrinology , diabetes mellitus
A 27‐year‐old man with negative family history and both parents with normal neurological evaluation and motor nerve conduction velocities (MNCVs) showed onset of severe weakness of feet at 4 years of age. Subsequently he developed left equinovarus deformity, thoracic scoliosis, ulnar nerve enlargement, areflexia, distal hypesthesia and slowing of MNCVs for median and ulnar nerves (15–25 m/sec). Molecular genetic studies showed deletion of one nucleotide (G330) (codon 94) in exon 3 of the PMP22 gene associated with frameshift mutation. © 1997 John Wiley & Sons, Inc. Muscle Nerve 20: 1308–1310, 1997