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Macrocephalic mental retardation associated with a novel C-terminalMECP2frameshift deletion

✍ Scribed by Konrad Oexle; Barbara Thamm-Mücke; Thomas Mayer; Sigrid Tinschert

Publisher
Springer
Year
2004
Tongue
English
Weight
207 KB
Volume
164
Category
Article
ISSN
0340-6997

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In this study we have carried out a mutational screening of exons 62-79 of the dystrophin gene by SSCP in 38 italian patients with DMD/BMD and found two novel mutations at exon 70, in 2 mentally retarded DMD patients.