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Surplus protein myopathies.
Goebel HH, Warlo IA. Goebel HH, et al. Neuromuscul Disord. 2001 Jan;11(1):3-6. doi: 10.1016/s0960-8966(00)00165-6. Neuromuscul Disord. 2001. PMID: 11166159 Review.
This emerging group of congenital myopathies is clinically, immunohistochemically, and genetically diverse. Clinically, early- and late-onset diseases with variable courses are described. Immunohistochemically, mutant gene-related and other proteins have been identified by …
This emerging group of congenital myopathies is clinically, immunohistochemically, and genetically diverse. Clinically, early- and late-onse …
Hyaline body myopathy.
Barohn RJ, Brumback RA, Mendell JR. Barohn RJ, et al. Neuromuscul Disord. 1994 May;4(3):257-62. doi: 10.1016/0960-8966(94)90027-2. Neuromuscul Disord. 1994. PMID: 7522681
Hyaline body myopathy most likely represents a distinct congenital myopathy because of its childhoot-onset, non-progressive course, and distinct morphological features....
Hyaline body myopathy most likely represents a distinct congenital myopathy because of its childhoot-onset, non-progressive course, a …
Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings.
Bohlega S, Lach B, Meyer BF, Al Said Y, Kambouris M, Al Homsi M, Cupler EJ. Bohlega S, et al. Neurology. 2003 Dec 9;61(11):1519-23. doi: 10.1212/01.wnl.0000096022.09887.9d. Neurology. 2003. PMID: 14663035
All biopsies showed "myopathic" changes, angulated neurogenic fibers, and fiber type grouping. There was no correlation between HB and course of disease; the progressive cases displayed more severe myopathic features. ...
All biopsies showed "myopathic" changes, angulated neurogenic fibers, and fiber type grouping. There was no correlation between HB and co …