Alhamidi, Maisoon; Brox, Vigdis; Stensland, Eva; Liset, Merete; Lindal, Sigurd; Nilssen, Øivind (Journal article; Tidsskriftartikkel; Peer reviewed, 2017-07)
<p>Limb girdle muscular dystrophy type 2I (LGMD2I) is a progressive disorder caused by mutations in the FuKutin-Related Protein gene (FKRP). LGMD2I displays clinical heterogeneity with onset of severe symptoms in early childhood to mild calf and thigh hypertrophy in the second or third decade. Patients homozygous for the common FKRP mutation c.826C>A (p.Leu276Ile) show phenotypes within the milder ...