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2008, 1. Aufl., Advances in experimental medicine and biology, ISBN 0387848460, Volume 642., xxii, 227
Although best known for its role in heart disease, the sarcomere--the fundamental unit of muscle contraction--is also involved in skeletal muscle diseases.... 
Muscles | physiopathology | Skeletal | Sarcomeres | Diseases | Human Physiology | Biomedicine general | Biomedicine
Book
Neuropathology, ISSN 0919-6544, 12/2015, Volume 35, Issue 6, pp. 575 - 581
Journal Article
Journal Article
HUMAN MUTATION, ISSN 1059-7794, 07/2014, Volume 35, Issue 7, pp. 868 - 879
Laing early onset distal myopathy and myosin storage myopathy are caused by mutations of slow skeletal/-cardiac myosin heavy chain encoded by the gene MYH7, as... 
Laing distal myopathy | SEQUENCE VARIATION | CARDIOMYOPATHY | M-BAND | MISSENSE MUTATIONS | FIBER-TYPE DISPROPORTION | HEAVY-CHAIN | MPD1 | GENE | DISEASE | GENETICS & HEREDITY | STORAGE MYOPATHY | STRIATED-MUSCLE | MYH7 | Myosin | Muscles | Boycotts | Family | Genetic aspects | Muscle proteins | Muscular dystrophy | Musculoskeletal system | Mutation | Scoliosis | Cardiomyopathy
Journal Article
PLoS genetics, ISSN 1553-7390, 12/2018, Volume 14, Issue 12, pp. e1007845 - e1007845
Journal Article
10/2010, Advances in Experimental Medicine and Biology Ser., ISBN 9781441927415, Volume 642
Annotation Although best known for its role in heart disease, the sarcomere--the fundamental unit of muscle contraction--is also involved in skeletal muscle... 
Muscles | Musculoskeletal System | Medical
Web Resource
10/2010, Advances in Experimental Medicine and Biology Ser., ISBN 9781441927415, Volume 642
Annotation Although best known for its role in heart disease, the sarcomere--the fundamental unit of muscle contraction--is also involved in skeletal muscle... 
Muscles | Musculoskeletal System | Medical
Web Resource
The American Journal of Human Genetics, ISSN 0002-9297, 12/2013, Volume 93, Issue 6, pp. 1108 - 1117
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 6 - 18
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2014, Volume 95, Issue 2, pp. 218 - 226
Journal Article
Genome Biology, ISSN 1474-7596, 08/2018, Volume 19, Issue 1, pp. 121 - 121
Journal Article
European Journal of Neurology, ISSN 1351-5101, 06/2018, Volume 25, Issue 6, pp. 841 - 847
Background and purposeNemaline myopathy (NEM) has been associated with mutations in 12 genes to date. However, for some patients diagnosed with NEM, definitive... 
nemaline myopathy | RYR | channels | ryanodine receptors | intracellular Ca | RYR3 | CORES | MALIGNANT HYPERTHERMIA | RODS | DOMINANT | NEUROSCIENCES | intracellular Ca2+ channels | CLINICAL NEUROLOGY | DISEASE | CONGENITAL MYOPATHY | MUTATIONS | Young Adult | Genetic Predisposition to Disease | Myopathies, Nemaline - genetics | Comparative Genomic Hybridization | Genetic Association Studies | Ryanodine Receptor Calcium Release Channel - genetics | Humans | Female | Muscle, Skeletal - pathology | Mutation, Missense | Myopathies, Nemaline - pathology | DNA Copy Number Variations | Genetic research | Muscles | Cytogenetics | Genetic aspects | Genes | Brain | Spinal cord | Copy number | Fetuses | Ryanodine receptors | Hybridization | Glucose | Skeletal muscle | Gene sequencing | Heterozygosity | Atrophy | Musculoskeletal system | Biopsy | Scoliosis | Nemaline myopathy | Palate | Mutation | Localization | Immunofluorescence | Cytoplasm | Myopathy | Index Medicus | Biological Sciences | Basic Medicine | Neurologi | Medical and Health Sciences | Translationell medicin TRIM | Medicin och hälsovetenskap | Klinisk medicin | Biomedical Genetics | Genetik | Medical Genetics | Medicinsk genetik | Clinical Medicine | Neurology | Biomedicinsk genetik | Naturvetenskap | Biologiska vetenskaper | Medicinska och farmaceutiska grundvetenskaper | Genetics | Translational Medicine TRIM | Natural Sciences
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