Publications:

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

American Journal Of Human Genetics

Brockington, M M; Blake, D J DJ; Prandini, P P; Brown, S C SC; Torelli, S S; Benson, M A MA; Ponting, C P CP; Estournet, B B; Romero, N B NB; Mercuri, E E; Voit, T T; Sewry, C A CA; Guicheney, P P; Muntoni, F F

Publication Date: 2001-12

Variant appearance in text: DMD: A1394C

PubMed Link: 11592034

Variant Present in the following documents:

• Main text

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