G.P.276

Mutations in FKRP, critical for normal glycosylation of alpha-dystroglycan, result in clinically heterogeneous muscular dystrophy. Purpose: Describe the clinical phenotype and progression in a cohort of patients with FKRP mutations who were followed with annual standardized assessments. Methods: IRB...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2014-10, Vol.24 (9), p.900-900
Main Authors: Crockett, C.D, Stephan, C.M, Mockler, S.R.H, Laubscher, K.M, Zimmerman, B.M, Mathews, K.D
Format: Article
Language:English
Subjects:
Neurology
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Summary:Mutations in FKRP, critical for normal glycosylation of alpha-dystroglycan, result in clinically heterogeneous muscular dystrophy. Purpose: Describe the clinical phenotype and progression in a cohort of patients with FKRP mutations who were followed with annual standardized assessments. Methods: IRB approval was obtained. Subjects are enrolled in an ongoing Dystroglycanopathy natural history study. The current report includes all patients with FKRP mutations. Data collection included MMT, myometry, timed function tests, mutation analysis and historical information. Forty-three participants, ages 1–51 years, have been followed for
ISSN:0960-8966
DOI:10.1016/j.nmd.2014.06.352