Article
A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family.
Neuromuscular disorders : NMD - 1 Jan 2015
Baranello Giovanni, Saredi Simona, Sansanelli Serena, Savadori Paolo, Canioni Eleonora, Chiapparini Luisa, Balestri Paolo, Malandrini Alessandro, Arnoldi Maria Teresa, Pantaleoni Chiara, Morandi Lucia, Mora Marina
Abstract excerpt
Within the group of muscular dystrophies, dystroglycanopathies represent an important subgroup of recessively inherited disorders. Their severity varies from the relatively mild forms of adult-onset limb-girdle muscular dystrophy (LGMD), to the severe congenital muscular dystrophies (CMD) with cerebral and ocular involvement. We describe 2 consanguineous children of Pakistani origin, carrying a new homozygous...
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