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Myotonic dystrophy type 2: the 2020 update.
Meola G. Meola G. Acta Myol. 2020 Dec 1;39(4):222-234. doi: 10.36185/2532-1900-026. eCollection 2020 Dec. Acta Myol. 2020. PMID: 33458578 Free PMC article. Review.
The myotonic dystrophies are the commonest cause of adult-onset muscular dystrophy. Phenotypes of DM1 and DM2 are similar, but there are some important differences, including the presence or absence of congenital form, muscles primarily affected (distal vs pr …
The myotonic dystrophies are the commonest cause of adult-onset muscular dystrophy. Phenotypes of DM1 and DM2 are similar, but there …
Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms.
Nowak KJ, Ravenscroft G, Laing NG. Nowak KJ, et al. Acta Neuropathol. 2013 Jan;125(1):19-32. doi: 10.1007/s00401-012-1019-z. Epub 2012 Jul 24. Acta Neuropathol. 2013. PMID: 22825594 Free article. Review.
Mutations in the skeletal muscle alpha-actin gene (ACTA1) cause a range of congenital myopathies characterised by muscle weakness and specific skeletal muscle structural lesions. ...Whilst precise mechanisms are being grappled with, headway is b …
Mutations in the skeletal muscle alpha-actin gene (ACTA1) cause a range of congenital myopathies characterised by mu …
Congenital myopathies with inclusion bodies: a brief review.
Goebel HH. Goebel HH. Neuromuscul Disord. 1998 May;8(3-4):162-8. doi: 10.1016/s0960-8966(98)00022-4. Neuromuscul Disord. 1998. PMID: 9631396 Review.
Based on morphological abnormalities, congenital myopathies can be classified into several categories: (1) enzyme histochemically abnormal appearance without structural pathology, e.g., congenital fibre type disproportion or congenital …
Based on morphological abnormalities, congenital myopathies can be classified into several categories: (1) enzyme histochemica …