Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.

A family with two male cousins affected with myotubular myopathy (MTM) was referred to us for genetic counselling. Linkage analysis appeared to exclude the Xq28 region. As a gene for X linked MTM was recently identified in Xq28, we screened the obligatory carrier mothers for mutation. We found a 4 b...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Asıl Yazarlar: Vincent, M C, Guiraud-Chaumeil, C, Laporte, J, Manouvrier-Hanu, S, Mandel, J L
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1998
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051250/
https://ncbi.nlm.nih.gov/pubmed/9541111
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller