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Congenital myopathies.
D'Amico A, Bertini E. D'Amico A, et al. Curr Neurol Neurosci Rep. 2008 Jan;8(1):73-9. doi: 10.1007/s11910-008-0012-3. Curr Neurol Neurosci Rep. 2008. PMID: 18367042 Review.
Here, we focus on recent research advances in specific congenital myopathies, including nemaline myopathy, myotubular myopathy, centronuclear myopathy, central core myopathy, multi-minicore myopathy, congenital fiber-type disproportion myopathy, and hyaline body …
Here, we focus on recent research advances in specific congenital myopathies, including nemaline myopathy, myotubular myopathy, centronuclea …
Electron microscopy in neuromuscular disorders.
Fernandez C, Figarella-Branger D, Meyronet D, Cassote E, Tong S, Pellissier JF. Fernandez C, et al. Ultrastruct Pathol. 2005 Nov-Dec;29(6):437-50. doi: 10.1080/01913120500323175. Ultrastruct Pathol. 2005. PMID: 16316944 Review.
Accumulation of abnormal inclusion material is found in nemaline myopathy, actinopathies, and hyaline body myopathy. Myofibrillar disorganization involves cores, multiminicores, and myosin chain depletion. ...
Accumulation of abnormal inclusion material is found in nemaline myopathy, actinopathies, and hyaline body myopathy. My …
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
There was no correlation between HB and course of disease; the progressive cases displayed more severe myopathic features. CONCLUSIONS: Formation of hyaline bodies in hyaline body myopathy is associated with either myolysis or defective incorporation of heavy …
There was no correlation between HB and course of disease; the progressive cases displayed more severe myopathic features. CONCLUSIONS: Form …
Myopathies resulting from mutations in sarcomeric proteins.
Bönnemann CG, Laing NG. Bönnemann CG, et al. Curr Opin Neurol. 2004 Oct;17(5):529-37. doi: 10.1097/00019052-200410000-00003. Curr Opin Neurol. 2004. PMID: 15367857 Review.
RECENT FINDINGS: Recent findings include: the beginnings of an understanding of the role of the sarcomere in controlling muscle gene expression; the theoretical analysis of the increasing number of mutations identified in the skeletal muscle actin gene; the identification of muta …
RECENT FINDINGS: Recent findings include: the beginnings of an understanding of the role of the sarcomere in controlling muscle gene express …
Autosomal dominant hyaline body myopathy presenting as scapuloperoneal syndrome: clinical features and muscle pathology.
Masuzugawa S, Kuzuhara S, Narita Y, Naito Y, Taniguchi A, Ibi T. Masuzugawa S, et al. Neurology. 1997 Jan;48(1):253-7. doi: 10.1212/wnl.48.1.253. Neurology. 1997. PMID: 9008527
Hyaline bodies are rare subsarcolemmal aggregates in type 1 fibers of the skeletal muscle, stain pale pink with hematoxylin-eosin and pale green with the modified Gomori trichrome, and lack reactivity for glycogen and oxidative enzymes. We report clinical findings of autosomal-do …
Hyaline bodies are rare subsarcolemmal aggregates in type 1 fibers of the skeletal muscle, stain pale pink with hematoxylin-eosin and pale g …
MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies.
Stramare R, Beltrame V, Dal Borgo R, Gallimberti L, Frigo AC, Pegoraro E, Angelini C, Rubaltelli L, Feltrin GP. Stramare R, et al. Radiol Med. 2010 Jun;115(4):585-99. doi: 10.1007/s11547-010-0531-2. Epub 2010 Feb 22. Radiol Med. 2010. PMID: 20177980 English, Italian.
MATERIALS AND METHODS: A systematic clinical evaluation based on the Medical Research Council scale and MRI was completed in ten patients with calpainopathy [limb-girdle muscular dystrophy (LGMD)-2A], 16 with dysferlinopathy (LGMD-2B), ten with hyaline body myopa …
MATERIALS AND METHODS: A systematic clinical evaluation based on the Medical Research Council scale and MRI was completed in ten patients wi …