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Episodes of exercise-induced dark urine and myalgia in LGMD 2I.

Journal article
Authors Christopher Lindberg
C Sixt
Anders Oldfors
Published in Acta neurologica Scandinavica
Volume 125
Issue 4
Pages 285-7
ISSN 1600-0404
Publication year 2012
Published at Institute of Biomedicine, Department of Pathology
Pages 285-7
Language en
Keywords Adult, Exercise, Humans, Muscle, Skeletal, pathology, Muscular Dystrophies, Limb-Girdle, complications, genetics, urine, Mutation, genetics, Myoglobinuria, etiology, urine, Phenotype, Recurrence
Subject categories Clinical Medicine

Abstract

Mutations in the fukutin-related protein gene FKRP (MIM *606596) cause a form of congenital muscular dystrophy (MDC1C) and also limb girdle muscular dystrophy type 2I (LGMD2I). Exercise-induced myoglobinuria, frequently occurring in metabolic myopathies, has been described in Becker muscular dystrophy and in a few cases of LGMD.

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