[…] evaluate muscle disorders with confidence "Overall, this is a well written and comprehensive textbook of muscle pathology that will be of invaluable assistance to laboratories reporting muscle pathology" Reviewed by The Bulletin of The Royal College of Pathologists [books.google.de]

University of Washington, Seattle; Available from: PMID: 20301672 Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic [invitae.com]

Pathologists play an important role since etiological diagnosis of cause of cardiomyopathy will enable cardiologist for timely treatment of heart failure. [j-pcs.org]

Jiang, Myogenesis and molecules— insights from zebrafish Danio rerio, Journal of Fish Biology, 74, 8, (1693-1755), (2009). Montse Olivé, Extralysosomal Protein Degradation in Myofibrillar Myopathies, Brain Pathology, 19, 3, (507-515), (2009). M. [doi.org]

Spheroid body myopathy (SBM) [MIM:182920]: Autosomal dominant form of myofibrillar myopathy (MFM), characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. There is no evidence of cardiomyopathy. [genecards.org]

A neuromuscular disorder characterized by distal and proximal muscle weakness with signs of cardiomyopathy and neuropathy. 7 isoforms of the human protein are produced by alternative splicing. [mybiosource.com]

A neuromuscular disorder characterized by distal and proximal muscle weakness with signs of cardiomyopathy and neuropathy. 配列類似性 Contains 3 LIM zinc-binding domains. Contains 1 PDZ (DHR) domain. 細胞内局在 Cytoplasm perinuclear region. [abcam.co.jp]

[…] slowly Progressive •Respiratory muscles •Non progressive minimal facial muscle involvement •Minimal proximal muscle weakness •Benign course 23. [slideshare.net]

Mutations in genes DES, located on the long arm of chromosome 2 (2q35), Myot located on the long arm of chromosome 5 (5q31) and LDB3 located on the long arm of chromosome 10 (10q22.3 - q23.2 ) they are responsible for most cases. [ivami.com]

AD variant: Mutations in dynamin 2 (DNM2) Most patients have a mild phenotype Onset in adolescence or adulthood Axial as well as distal more than proximal limb weakness and slow progression. [slideshare.net]

The typical (most common) congenital form presents within the first year of life with hypotonia, generalized limb weakness, facial weakness, feeding difficulty, and mild respiratory weakness. [emedicine.medscape.com]