Article
A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.
Neuromuscular disorders : NMD - 1 Apr 2014
Wallace Stephanie E, Conta Jessie H, Winder Thomas L, Willer Tobias, Eskuri Jamie M, Haas Richard, Patterson Kathleen, Campbell Kevin P, Moore Steven A, Gospe Sidney M
Abstract excerpt
Mutations in POMT1 lead to a group of neuromuscular conditions ranging in severity from Walker-Warburg syndrome to limb girdle muscular dystrophy. We report two male siblings, ages 19 and 14, and an unrelated 6-year old female with early onset muscular dystrophy and intellectual disability with minimal structural brain anomalies and no ocular abnormalities. Compound heterozygous mutations in POMT1 were identified...
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