Myopathy with hexagonally cross-linked tubular arrays: A new autosomal dominant or sporadic congenital myopathy
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Clinical and morphological phenotype of the filamin myopathy: A study of 31 German patients
Kley R, Hellenbroich Y, Van der Ven P et al (2007) Clinical and morphological phenotype of the filamin myopathy: A study of 31 German patients. Brain 130:3250-3264
Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency
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Caveolin-1 and Caveolin-2 deficient mice both display numerous skeletal abnormalities, with tubular aggregate formation
Schubert W, Sotgia F, Cohen AW et al (2007) Caveolin-1 and Caveolin-2 deficient mice both display numerous skeletal abnormalities, with tubular aggregate formation. Am J Pathol 170:316-333
A sporadic case of rippling muscle disease caused by a de novo Caveolin-3 mutation
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Caveolinopathies. Mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases
Woodman SE, Sotgia F, Galbiati F et al (2004) Caveolinopathies. Mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases. Neurology 62:538-543