A mild case of Friedreich ataxia: lymphocyte and sural nerve analysis for GAA repeat length reveals somatic mosaicism.

Machkhas, H

A mild case of Friedreich ataxia: lymphocyte and sural nerve analysis for GAA repeat length reveals somatic mosaicism. [electronic resource] - Muscle & nerve Mar 1998 - 390-3 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0148-639X

10.1002/(sici)1097-4598(199803)21:3<390::aid-mus13>3.0.co;2-3 doi


Adult
Biopsy
Chromosomes, Human, Pair 17
Electrophysiology--methods
Female
Friedreich Ataxia--genetics
Genetic Carrier Screening
Homozygote
Humans
Introns
Iron-Binding Proteins
Lymphocytes--physiology
Male
Mosaicism
Multiple Sclerosis--genetics
Nerve Fibers, Myelinated--pathology
Pedigree
Peripheral Nerves--physiology
Phosphotransferases (Alcohol Group Acceptor)--genetics
Polymerase Chain Reaction
Sural Nerve--pathology
Trinucleotide Repeats
Frataxin